Name: rs333
Published: September 3, 2024
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs333

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr3:46373453-46373487 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: delGTCAGTATCAATTCTGGAAGAATTTCCAGACA
Variation Type: Indel Insertion and Deletion
Frequency: delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.1009875 (141516/1401322, GnomAD_exomes)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.071408 (10649/149128, GnomAD_genomes)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.072628 (8805/121234, ExAC) (+ 12 more)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.02465 (1940/78694, PAGE_STUDY)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.00005 (4/77444, 38KJPN)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.09286 (2358/25394, ALFA)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.06043 (755/12494, GO-ESP)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0294 (188/6404, 1000G_30X)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0292 (146/5008, 1000G)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.1179 (528/4480, Estonian)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0937 (361/3854, ALSPAC)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0742 (275/3708, TWINSUK)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.107 (64/600, NorthernSweden)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.005 (1/216, Vietnamese)
delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.25 (10/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CCR5 : Frameshift Variant
CCR5AS : Intron Variant
Publications: 108 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	25394	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.90714	ACA=0.09286	0.823817	0.00953	0.166654	1
European	Sub	18192	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.89045	ACA=0.10955	0.792106	0.011214	0.19668	0
African	Sub	3424	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.9763	ACA=0.0237	0.953855	0.001168	0.044977	1
African Others	Sub	116	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=1.000	ACA=0.000	1.0	0.0	0.0	N/A
African American	Sub	3308	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.9755	ACA=0.0245	0.952237	0.001209	0.046554	1
Asian	Sub	164	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=1.000	ACA=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	110	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=1.000	ACA=0.000	1.0	0.0	0.0	N/A
Other Asian	Sub	54	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=1.00	ACA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	146	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.959	ACA=0.041	0.931507	0.013699	0.054795	4
Latin American 2	Sub	610	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.977	ACA=0.023	0.954098	0.0	0.045902	0
South Asian	Sub	94	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=1.00	ACA=0.00	1.0	0.0	0.0	N/A
Other	Sub	2764	ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.9045	ACA=0.0955	0.82055	0.011577	0.167873	1

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
gnomAD v4 - Exomes	Global	Study-wide	1401322	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.8990125	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.1009875
gnomAD v4 - Exomes	European	Sub	1165262	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.8844380	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.1155620
gnomAD v4 - Exomes	South Asian	Sub	86258	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.98288	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.01712
gnomAD v4 - Exomes	American	Sub	44724	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.96968	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.03032
gnomAD v4 - Exomes	East Asian	Sub	39700	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.99990	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.00010
gnomAD v4 - Exomes	African	Sub	33478	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.98465	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.01535
gnomAD v4 - Exomes	Ashkenazi Jewish	Sub	26132	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.86920	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.13080
gnomAD v4 - Exomes	Middle Eastern	sub	5768	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9849	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0151
gnomAD v4 - Genomes	Global	Study-wide	149128	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.928592	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.071408
gnomAD v4 - Genomes	European	Sub	78534	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.88905	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.11095
gnomAD v4 - Genomes	African	Sub	41550	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.97969	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.02031
gnomAD v4 - Genomes	American	Sub	15282	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.96303	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.03697
gnomAD v4 - Genomes	East Asian	Sub	5180	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9994	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0006
gnomAD v4 - Genomes	South Asian	Sub	4820	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9859	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0141
gnomAD v4 - Genomes	Ashkenazi Jewish	Sub	3470	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.8697	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.1303
gnomAD v4 - Genomes	Middle Eastern	sub	292	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.986	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.014
ExAC	Global	Study-wide	121234	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.927372	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.072628
ExAC	Europe	Sub	73300	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.89156	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.10844
ExAC	Asian	Sub	25164	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.99054	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.00946
ExAC	American	Sub	11578	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.97228	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.02772
ExAC	African	Sub	10286	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.97958	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.02042
ExAC	Other	Sub	906	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.904	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.096
The PAGE Study	Global	Study-wide	78694	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.97535	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.02465
The PAGE Study	AfricanAmerican	Sub	32516	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.97804	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.02196
The PAGE Study	Mexican	Sub	10806	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.96965	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.03035
The PAGE Study	Asian	Sub	8318	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9995	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0005
The PAGE Study	PuertoRican	Sub	7918	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9731	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0269
The PAGE Study	NativeHawaiian	Sub	4532	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9715	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0285
The PAGE Study	Cuban	Sub	4230	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9567	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0433
The PAGE Study	Dominican	Sub	3828	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9673	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0327
The PAGE Study	CentralAmerican	Sub	2450	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9714	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0286
The PAGE Study	SouthAmerican	Sub	1980	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9672	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0328
The PAGE Study	NativeAmerican	Sub	1260	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9246	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0754
The PAGE Study	SouthAsian	Sub	856	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.984	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.016
38KJPN	JAPANESE	Study-wide	77444	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.99995	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.00005
Allele Frequency Aggregator	Total	Global	25394	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.90714	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.09286
Allele Frequency Aggregator	European	Sub	18192	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.89045	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.10955
Allele Frequency Aggregator	African	Sub	3424	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9763	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0237
Allele Frequency Aggregator	Other	Sub	2764	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9045	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0955
Allele Frequency Aggregator	Latin American 2	Sub	610	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.977	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.023
Allele Frequency Aggregator	Asian	Sub	164	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=1.000	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.959	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.041
Allele Frequency Aggregator	South Asian	Sub	94	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=1.00	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.00
GO Exome Sequencing Project	Global	Study-wide	12494	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.93957	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.06043
GO Exome Sequencing Project	European American	Sub	8228	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9153	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0847
GO Exome Sequencing Project	African American	Sub	4266	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9864	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0136
1000Genomes_30X	Global	Study-wide	6404	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9706	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0294
1000Genomes_30X	African	Sub	1786	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9972	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0028
1000Genomes_30X	Europe	Sub	1266	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.8902	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.1098
1000Genomes_30X	South Asian	Sub	1202	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9917	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0083
1000Genomes_30X	East Asian	Sub	1170	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=1.0000	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0000
1000Genomes_30X	American	Sub	980	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.965	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.035
1000Genomes	Global	Study-wide	5008	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9708	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0292
1000Genomes	African	Sub	1322	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9970	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0030
1000Genomes	East Asian	Sub	1008	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=1.0000	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0000
1000Genomes	Europe	Sub	1006	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.8897	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.1103
1000Genomes	South Asian	Sub	978	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.991	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.009
1000Genomes	American	Sub	694	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.968	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.032
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.8821	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.1179
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9063	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0937
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.9258	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.0742
Northern Sweden	ACPOP	Study-wide	600	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.893	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.107
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.995	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.005
The Danish reference pan genome	Danish	Study-wide	40	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=0.75	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA=0.25

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 3	NC_000003.12:g.46373456_46373487del
GRCh37.p13 chr 3	NC_000003.11:g.46414947_46414978del
CCR5 RefSeqGene	NG_012637.1:g.8315_8346del

Gene: CCR5, C-C motif chemokine receptor 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CCR5 transcript variant A	NM_000579.4:c.554_585del	S [AG] > I [A]	Coding Sequence Variant
C-C chemokine receptor type 5	NP_000570.1:p.Ser185fs	S (Ser) > I (Ile)	Frameshift Variant
CCR5 transcript variant B	NM_001100168.2:c.554_585d… NM_001100168.2:c.554_585del	S [AG] > I [A]	Coding Sequence Variant
C-C chemokine receptor type 5	NP_001093638.1:p.Ser185fs	S (Ser) > I (Ile)	Frameshift Variant
CCR5 transcript variant C	NM_001394783.1:c.554_585d… NM_001394783.1:c.554_585del	S [AG] > I [A]	Coding Sequence Variant
C-C chemokine receptor type 5	NP_001381712.1:p.Ser185fs	S (Ser) > I (Ile)	Frameshift Variant

Gene: CCR5AS, CCR5 antisense RNA (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CCR5AS transcript	NR_125406.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Allele: delGTCAGTATCAATTCTGGAAGAATTTCCAGACA (allele ID: 23223 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000008663.5	Susceptibility to HIV infection	Protective
RCV000008664.4	West Nile virus, susceptibility to	Risk-Factor
RCV000008665.6	Resistance to hepatitis C virus	Protective
RCV000008666.5	Multiple sclerosis modifier of disease progression	Risk-Factor
RCV000950102.2	not provided	Benign
RCV003974808.1	CCR5-related disorder	Benign

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	A(CAGT)₂ATCAATTCTGGAAGAATTTCCAGACA=	delGTCAGTATCAATTCTGGAAGAATTTCCAGACA
GRCh38.p14 chr 3	NC_000003.12:g.46373453_46373487=	NC_000003.12:g.46373456_46373487del
GRCh37.p13 chr 3	NC_000003.11:g.46414944_46414978=	NC_000003.11:g.46414947_46414978del
CCR5 RefSeqGene	NG_012637.1:g.8312_8346=	NG_012637.1:g.8315_8346del
CCR5 transcript variant A	NM_000579.4:c.551_585=	NM_000579.4:c.554_585del
CCR5 transcript variant A	NM_000579.3:c.551_585=	NM_000579.3:c.554_585del
CCR5 transcript variant B	NM_001100168.2:c.551_585=	NM_001100168.2:c.554_585del
CCR5 transcript variant B	NM_001100168.1:c.551_585=	NM_001100168.1:c.554_585del
CCR5 transcript variant C	NM_001394783.1:c.551_585=	NM_001394783.1:c.554_585del
LOC727797 transcript	NM_001105536.1:c.551_585=	NM_001105536.1:c.554_585del
C-C chemokine receptor type 5	NP_000570.1:p.Tyr184_Thr195=	NP_000570.1:p.Ser185fs
C-C chemokine receptor type 5	NP_001093638.1:p.Tyr184_Thr195=	NP_001093638.1:p.Ser185fs
C-C chemokine receptor type 5	NP_001381712.1:p.Tyr184_Thr195=	NP_001381712.1:p.Ser185fs
CCR5 transcript variant X2	XM_005264855.1:c.550+1=	XM_005264855.1:c.550+4_553del

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

49 SubSNP, 15 Frequency, 6 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	NCBI	ss334	Sep 19, 2000 (36)
2	SNP500CANCER	ss5586335	Mar 31, 2003 (113)
3	KIDDLAB	ss6312538	Feb 20, 2003 (113)
4	CGM_KYOTO	ss76868272	Dec 07, 2007 (131)
5	CNG	ss95210450	Mar 25, 2008 (130)
6	1000GENOMES	ss1370291708	Aug 21, 2014 (136)
7	OMIM-CURATED-RECORDS	ss1505810862	Dec 08, 2014 (142)
8	EVA_GENOME_DK	ss1578018880	Apr 01, 2015 (136)
9	EVA_DECODE	ss1588016654	Apr 01, 2015 (136)
10	EVA_UK10K_ALSPAC	ss1703610048	Apr 01, 2015 (136)
11	EVA_UK10K_TWINSUK	ss1703610076	Apr 01, 2015 (136)
12	EVA_EXAC	ss1711720988	Apr 01, 2015 (136)
13	ILLUMINA	ss1958559336	Feb 12, 2016 (136)
14	ILLUMINA	ss2094812410	Dec 20, 2016 (150)
15	ILLUMINA	ss2095129519	Dec 20, 2016 (150)
16	ILLUMINA	ss2136299196	Dec 20, 2016 (136)
17	ILLUMINA	ss2633944651	Nov 08, 2017 (151)
18	GNOMAD	ss2746990371	Nov 08, 2017 (151)
19	GNOMAD	ss2792417192	Nov 08, 2017 (151)
20	SWEGEN	ss2992240509	Nov 08, 2017 (151)
21	ILLUMINA	ss3022235374	Nov 08, 2017 (151)
22	ILLUMINA	ss3652705990	Oct 12, 2018 (152)
23	ILLUMINA	ss3652705991	Oct 12, 2018 (152)
24	EGCUT_WGS	ss3660161315	Jul 13, 2019 (153)
25	EVA_DECODE	ss3709143763	Jul 13, 2019 (153)
26	ILLUMINA	ss3726011844	Jul 13, 2019 (153)
27	ACPOP	ss3729851927	Jul 13, 2019 (153)
28	PAGE_CC	ss3771028261	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3803122224	Jul 13, 2019 (153)
30	EVA	ss3823905097	Apr 25, 2020 (154)
31	EVA	ss3986236068	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss6023035425	Nov 02, 2024 (157)
33	EVA	ss6322179793	Nov 02, 2024 (157)
34	YEGNASUBRAMANIAN_LAB	ss6336492328	Nov 02, 2024 (157)
35	GNOMAD	ss6417493578	Nov 02, 2024 (157)
36	GNOMAD	ss6587367688	Nov 02, 2024 (157)
37	TOMMO_GENOMICS	ss8158936615	Nov 02, 2024 (157)
38	EVA	ss8236995880	Nov 02, 2024 (157)
39	EVA	ss8237639319	Nov 02, 2024 (157)
40	1000G_HIGH_COVERAGE	ss8253931336	Nov 02, 2024 (157)
41	TRAN_CS_UWATERLOO	ss8314406821	Nov 02, 2024 (157)
42	HUGCELL_USP	ss8453338520	Nov 02, 2024 (157)
43	1000G_HIGH_COVERAGE	ss8532215185	Nov 02, 2024 (157)
44	SANFORD_IMAGENETICS	ss8624517312	Nov 02, 2024 (157)
45	SANFORD_IMAGENETICS	ss8632051066	Nov 02, 2024 (157)
46	TOMMO_GENOMICS	ss8690525433	Nov 02, 2024 (157)
47	EVA	ss8848580818	Nov 02, 2024 (157)
48	EVA	ss8960338564	Nov 02, 2024 (157)
49	EVA	ss8981423840	Nov 02, 2024 (157)
50	1000Genomes	NC_000003.11 - 46414944	Oct 12, 2018 (152)
51	1000Genomes_30X	NC_000003.12 - 46373453	Nov 02, 2024 (157)
52	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 46414944	Oct 12, 2018 (152)
53	Genetic variation in the Estonian population	NC_000003.11 - 46414944	Oct 12, 2018 (152)
54	ExAC	NC_000003.11 - 46414944	Oct 12, 2018 (152)
55	The Danish reference pan genome	NC_000003.11 - 46414944	Apr 25, 2020 (154)
56	gnomAD v4 - Exomes	NC_000003.12 - 46373453	Nov 02, 2024 (157)
57	gnomAD v4 - Genomes	NC_000003.12 - 46373453	Nov 02, 2024 (157)
58	GO Exome Sequencing Project	NC_000003.11 - 46414944	Oct 12, 2018 (152)
59	Northern Sweden	NC_000003.11 - 46414944	Jul 13, 2019 (153)
60	The PAGE Study	NC_000003.12 - 46373453	Jul 13, 2019 (153)
61	38KJPN	NC_000003.12 - 46373453	Nov 02, 2024 (157)
62	UK 10K study - Twins	NC_000003.11 - 46414944	Oct 12, 2018 (152)
63	A Vietnamese Genetic Variation Database	NC_000003.11 - 46414944	Jul 13, 2019 (153)
64	ALFA	NC_000003.12 - 46373453	Nov 02, 2024 (157)
65	ClinVar	RCV000008663.5	Apr 26, 2021 (155)
66	ClinVar	RCV000008664.4	Apr 26, 2021 (155)
67	ClinVar	RCV000008665.6	Apr 26, 2021 (155)
68	ClinVar	RCV000008666.5	Apr 26, 2021 (155)
69	ClinVar	RCV000950102.2	Apr 26, 2021 (155)
70	ClinVar	RCV003974808.1	Nov 02, 2024 (157)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs4646963	Apr 07, 2003 (113)
rs56030631	Dec 02, 2009 (131)
rs62627090	May 26, 2008 (130)
rs562091107	Feb 27, 2017 (150)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1588016654	NC_000003.10:46389947:ACAGTCAGTATC… NC_000003.10:46389947:ACAGTCAGTATCAATTCTGGAAGAATTTCCAG:	NC_000003.12:46373452:ACAGTCAGTATC… NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA	(self)
ss2094812410	NC_000003.10:46389950:GTCAGTATCAAT… NC_000003.10:46389950:GTCAGTATCAATTCTGGAAGAATTTCCAGACA:	NC_000003.12:46373452:ACAGTCAGTATC… NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA	(self)
15005406, 8344538, 5899563, 6888193, 70563, 363440, 3136792, 8344538, 1816325, ss1370291708, ss1578018880, ss1703610048, ss1703610076, ss1711720988, ss1958559336, ss2136299196, ss2746990371, ss2792417192, ss2992240509, ss3022235374, ss3652705990, ss3660161315, ss3729851927, ss3823905097, ss3986236068, ss6322179793, ss6336492328, ss8158936615, ss8632051066, ss8960338564, ss8981423840	NC_000003.11:46414943:ACAGTCAGTATC… NC_000003.11:46414943:ACAGTCAGTATCAATTCTGGAAGAATTTCCAG:	NC_000003.12:46373452:ACAGTCAGTATC… NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA	(self)
ss2095129519, ss2633944651, ss3652705991, ss8624517312, ss8848580818	NC_000003.11:46414946:GTCAGTATCAAT… NC_000003.11:46414946:GTCAGTATCAATTCTGGAAGAATTTCCAGACA:	NC_000003.12:46373452:ACAGTCAGTATC… NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA	(self)
19741120, 12797652, 113879676, 249730, 40411245, ss3709143763, ss3726011844, ss3771028261, ss3803122224, ss6023035425, ss6417493578, ss6587367688, ss8236995880, ss8237639319, ss8253931336, ss8314406821, ss8453338520, ss8532215185, ss8690525433	NC_000003.12:46373452:ACAGTCAGTATC… NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAG:	NC_000003.12:46373452:ACAGTCAGTATC… NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA	(self)
RCV000008663.5, RCV000008664.4, RCV000008665.6, RCV000008666.5, RCV000950102.2, RCV003974808.1, 4975927154	NC_000003.12:46373452:ACAGTCAGTATC… NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA	NC_000003.12:46373452:ACAGTCAGTATC… NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA	(self)
ss1505810862	NC_000003.12:46373455:GTCAGTATCAAT… NC_000003.12:46373455:GTCAGTATCAATTCTGGAAGAATTTCCAGACA:	NC_000003.12:46373452:ACAGTCAGTATC… NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA	(self)
ss334, ss5586335, ss6312538, ss76868272, ss95210450	NT_022517.18:46354946:GTCAGTATCAAT… NT_022517.18:46354946:GTCAGTATCAATTCTGGAAGAATTTCCAGACA:	NC_000003.12:46373452:ACAGTCAGTATC… NC_000003.12:46373452:ACAGTCAGTATCAATTCTGGAAGAATTTCCAGACA:ACA	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

108 citations for rs333

PMID	Title	Author	Year	Journal
8751444	Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene.	Samson M et al.	1996	Nature
8756719	Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection.	Liu R et al.	1996	Cell
9055842	HIV-1 infection in an individual homozygous for the CCR5 deletion allele.	Biti R et al.	1997	Nature medicine
9132277	Inherited resistance to HIV-1 conferred by an inactivating mutation in CC chemokine receptor 5: studies in populations with contrasting clinical phenotypes, defined racial background, and quantified risk.	Zimmerman PA et al.	1997	Molecular medicine (Cambridge, Mass.)
9140404	Global distribution of the CCR5 gene 32-basepair deletion.	Martinson JJ et al.	1997	Nature genetics
9207783	The extent of genetic variation in the CCR5 gene.	Ansari-Lari MA et al.	1997	Nature genetics
9466996	The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.	Libert F et al.	1998	Human molecular genetics
9511755	First report of a healthy Indian heterozygous for delta 32 mutant of HIV-1 co-receptor-CCR5 gene.	Husain S et al.	1998	Gene
9585595	Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.	Stephens JC et al.	1998	American journal of human genetics
9600249	Mutational analysis of the CCR5 and CXCR4 genes (HIV-1 co-receptors) in resistance to HIV-1 infection and AIDS development among intravenous drug users.	Alvarez V et al.	1998	Human genetics
9768627	Distribution of the CCR5 gene 32-bp deletion in Europe.	Lucotte G et al.	1998	Journal of acquired immune deficiency syndromes and human retrovirology
10520641	Association of CCR5 delta32 with reduced risk of asthma.	Hall IP et al.	1999	Lancet (London, England)
10615909	Prevalence of CCR5delta32 in allergic diseases.	Szalai C et al.	2000	Lancet (London, England)
10803840	CC-chemokine receptor 5 polymorphism and age of onset in familial multiple sclerosis. Multiple Sclerosis Genetics Group.	Barcellos LF et al.	2000	Immunogenetics
11081537	Delta 32 deletion of CCR5 gene and association with asthma or atopy.	Mitchell TJ et al.	2000	Lancet (London, England)
11403804	Chemokine receptor polymorphism in transplantation immunology: no longer just important in AIDS.	Strieter RM et al.	2001	Lancet (London, England)
11403814	CC chemokine receptor 5 and renal-transplant survival.	Fischereder M et al.	2001	Lancet (London, England)
11517319	The coreceptor mutation CCR5Delta32 influences the dynamics of HIV epidemics and is selected for by HIV.	Sullivan AD et al.	2001	Proceedings of the National Academy of Sciences of the United States of America
11781692	Absence of the HIV-1 protective Delta ccr5 allele in most ethnic populations of India.	Majumder PP et al.	2001	European journal of human genetics
12874407	A mutated CCR5 gene may have favorable prognostic implications in MS.	Kantor R et al.	2003	Neurology
15726497	Gene-environment interaction effects on the development of immune responses in the 1st year of life.	Hoffjan S et al.	2005	American journal of human genetics
15744032	Reappraisal of the historical selective pressures for the CCR5-Delta32 mutation.	Duncan SR et al.	2005	Journal of medical genetics
15863470	The CCR5-delta32 mutation: impact on disease outcome in individuals with hepatitis C infection from a single source.	Goulding C et al.	2005	Gut
16216086	The geographic spread of the CCR5 Delta32 HIV-resistance allele.	Novembre J et al.	2005	PLoS biology
16248677	The case for selection at CCR5-Delta32.	Sabeti PC et al.	2005	PLoS biology
16418398	CCR5 deficiency increases risk of symptomatic West Nile virus infection.	Glass WG et al.	2006	The Journal of experimental medicine
17327408	Prognostic significance of host immune gene polymorphisms in follicular lymphoma survival.	Cerhan JR et al.	2007	Blood
17355643	Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population.	Huang HY et al.	2007	BMC genetics
17672867	Polymorphisms in chemokine receptor genes and susceptibility to Kawasaki disease.	Breunis WB et al.	2007	Clinical and experimental immunology
18633131	Host immune gene polymorphisms in combination with clinical and demographic factors predict late survival in diffuse large B-cell lymphoma patients in the pre-rituximab era.	Habermann TM et al.	2008	Blood
18805939	Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.	Tempfer CB et al.	2009	Human reproduction update
19017985	Interaction between RANTES promoter variant and CCR5Delta32 favors recovery from hepatitis B.	Thio CL et al.	2008	Journal of immunology (Baltimore, Md.
19066394	Organochlorine exposure, immune gene variation, and risk of non-Hodgkin lymphoma.	Colt JS et al.	2009	Blood
19073967	Shared and distinct genetic variants in type 1 diabetes and celiac disease.	Smyth DJ et al.	2008	The New England journal of medicine
19131662	A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.	Wang X et al.	2009	Stroke
19225544	Variation in the lymphotoxin-alpha/tumor necrosis factor locus modifies risk of erythema nodosum in sarcoidosis.	McDougal KE et al.	2009	The Journal of investigative dermatology
19263529	Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.	Zee RY et al.	2009	Clinica chimica acta; international journal of clinical chemistry
19330901	Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.	Conen D et al.	2009	Journal of hypertension
19559392	A candidate gene association study of 77 polymorphisms in migraine.	Schürks M et al.	2009	The journal of pain
20038229	Chemokine polymorphisms and lymphoma: a pooled analysis.	Bracci PM et al.	2010	Leukemia & lymphoma
20041166	Common genetic variation and the control of HIV-1 in humans.	Fellay J et al.	2009	PLoS genetics
20068218	Donor and recipient chemokine receptor CCR5 genotype is associated with survival after bone marrow transplantation.	McDermott DH et al.	2010	Blood
20149939	Host genes associated with HIV/AIDS: advances in gene discovery.	An P et al.	2010	Trends in genetics
20205591	Host determinants of HIV-1 control in African Americans.	Pelak K et al.	2010	The Journal of infectious diseases
20206716	Genetic variation within the gene encoding the HIV-1 CCR5 coreceptor in two South African populations.	Picton AC et al.	2010	Infection, genetics and evolution
20531015	Effect of host genetics on incidence of HIV neuroretinal disorder in patients with AIDS.	Sezgin E et al.	2010	Journal of acquired immune deficiency syndromes (1999)
20552027	Host and viral genetic correlates of clinical definitions of HIV-1 disease progression.	Casado C et al.	2010	PloS one
20617924	Effect of host genetics on the development of cytomegalovirus retinitis in patients with AIDS.	Sezgin E et al.	2010	The Journal of infectious diseases
20805105	Synthetic associations in the context of genome-wide association scan signals.	Orozco G et al.	2010	Human molecular genetics
20854658	Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease.	Eyre S et al.	2010	Arthritis research & therapy
20978399	Mendelian randomization: potential use of genetics to enable causal inferences regarding HIV-associated biomarkers and outcomes.	He W et al.	2010	Current opinion in HIV and AIDS
21090563	Blockade of cytotoxic T-lymphocyte antigen-4 by ipilimumab results in dysregulation of gastrointestinal immunity in patients with advanced melanoma.	Berman D et al.	2010	Cancer immunity
21091093	Polymorphisms in chemokine and receptor genes and gastric cancer risk and survival in a high risk Polish population.	Gawron AJ et al.	2011	Scandinavian journal of gastroenterology
21396623	Association of host genetic risk factors with the course of cytomegalovirus retinitis in patients infected with human immunodeficiency virus.	Sezgin E et al.	2011	American journal of ophthalmology
21429204	Association of chemokine receptor gene (CCR2-CCR5) haplotypes with acquisition and control of HIV-1 infection in Zambians.	Malhotra R et al.	2011	Retrovirology
21673041	Chemokine (C-C motif) receptor 5 -2459 genotype in patients receiving highly active antiretroviral therapy: race-specific influence on virologic success.	Mehlotra RK et al.	2011	The Journal of infectious diseases
21708280	Candidate gene studies in gallbladder cancer: a systematic review and meta-analysis.	Srivastava K et al.	2011	Mutation research
21854194	Distribution of polymorphisms in cytochrome P450 2B6, histocompatibility complex P5, chemokine coreceptor 5, and interleukin 28B genes in inhabitants from the central area of Argentina.	Galván CA et al.	2012	Genetic testing and molecular biomarkers
21881118	Genetic variants and susceptibility to neurological complications following West Nile virus infection.	Loeb M et al.	2011	The Journal of infectious diseases
21919968	Validation of genetic variants associated with early acute rejection in kidney allograft transplantation.	Oetting WS et al.	2012	Clinical transplantation
21980439	A systems genetics approach provides a bridge from discovered genetic variants to biological pathways in rheumatoid arthritis.	Nakaoka H et al.	2011	PloS one
22046140	Role of exonic variation in chemokine receptor genes on AIDS: CCRL2 F167Y association with pneumocystis pneumonia.	An P et al.	2011	PLoS genetics
22123319	A prospective phase II trial exploring the association between tumor microenvironment biomarkers and clinical activity of ipilimumab in advanced melanoma.	Hamid O et al.	2011	Journal of translational medicine
22194275	Histological and genetic studies in patients with bicuspid aortic valve and ascending aorta complications.	Pisano C et al.	2012	Interactive cardiovascular and thoracic surgery
22384103	Low-replicating viruses and strong anti-viral immune response associated with prolonged disease control in a superinfected HIV-1 LTNP elite controller.	Pernas M et al.	2012	PloS one
22474614	Host genes important to HIV replication and evolution.	Telenti A et al.	2012	Cold Spring Harbor perspectives in medicine
22524430	Genetics of longevity. data from the studies on Sicilian centenarians.	Balistreri CR et al.	2012	Immunity & ageing
22807925	Touch of chemokines.	Blanchet X et al.	2012	Frontiers in immunology
22927710	Genetic markers of cardiovascular disease in rheumatoid arthritis.	Rodríguez-Rodríguez L et al.	2012	Mediators of inflammation
23107763	Host genetic risk factors for community-acquired pneumonia.	Salnikova LE et al.	2013	Gene
23632061	CCR2 and CCR5 genes polymorphisms in benign prostatic hyperplasia and prostate cancer.	Zambra FM et al.	2013	Human immunology
24078580	[Association of chemokines and their receptors genes polymorphisms with risk of myocardial infarction].	Xu X et al.	2013	Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
24281113	Inflammatory genetic markers of prostate cancer risk.	Tindall EA et al.	2010	Cancers
24750723	Association of chemokine receptor gene variants with HIV-1 genotype predicted tropism.	Parczewski M et al.	2014	HIV medicine
25383745	HIV-infection, atherosclerosis and the inflammatory pathway: candidate gene study in a Spanish HIV-infected population.	Ibáñez L et al.	2014	PloS one
25500253	Chemokine receptor V Δ32 deletion in multiple sclerosis patients in Csongrád County in Hungary and the North-Bácska region in Serbia.	Török N et al.	2015	Human immunology
26071874	CCR5Δ32 (rs333) polymorphism is associated with the susceptibility to systemic lupus erythematosus in female Brazilian patients.	Baltus TH et al.	2016	Rheumatology international
26223981	The CCR5Δ32 (rs333) polymorphism is not a predisposing factor for severe pandemic influenza in the Brazilian admixed population.	Maestri A et al.	2015	BMC research notes
26342156	Germline determinants of clinical outcome of cutaneous melanoma.	Vogelsang M et al.	2016	Pigment cell & melanoma research
26599761	Genetic Susceptibility to Cardiac and Digestive Clinical Forms of Chronic Chagas Disease: Involvement of the CCR5 59029 A/G Polymorphism.	de Oliveira AP et al.	2015	PloS one
26765343	Privacy-preserving genomic testing in the clinic: a model using HIV treatment.	McLaren PJ et al.	2016	Genetics in medicine
26982176	CCR2 and CCR5 genes polymorphisms in women with cervical lesions from Pernambuco, Northeast Region of Brazil: a case-control study.	Santos EU et al.	2016	Memorias do Instituto Oswaldo Cruz
27427275	Association of germline genetic variants in RFC, IL15 and VDR genes with minimal residual disease in pediatric B-cell precursor ALL.	Dawidowska M et al.	2016	Scientific reports
27894748	CCR5-Δ32 gene polymorphism is related to celiac disease and autoimmune thyroiditis coincidence in patients with type 1 diabetes.	Słomiński B et al.	2017	Journal of diabetes and its complications
28327790	Association of NR1I2 gene polymorphisms and time of progression to AIDS.	Medeiros RM et al.	2017	Memorias do Instituto Oswaldo Cruz
28501927	Cytokine gene polymorphism associations with congenital cytomegalovirus infection and sensorineural hearing loss.	Kasztelewicz B et al.	2017	European journal of clinical microbiology & infectious diseases
28969941	CCR5Δ32 (rs333) polymorphism is associated with decreased risk of chronic and aggressive periodontitis: A case-control analysis based in disease resistance and susceptibility phenotypes.	Cavalla F et al.	2018	Cytokine
29182645	HLA and non-HLA genes and familial predisposition to autoimmune diseases in families with a child affected by type 1 diabetes.	Parkkola A et al.	2017	PloS one
29239247	Correlations between polymorphisms in the uridine diphosphate-glucuronosyltransferase 1A and C-C motif chemokine receptor 5 genes and infection with the hepatitis B virus in three ethnic groups in China.	Zhang C et al.	2018	The Journal of international medical research
29369549	[Association of polymorphic markers of chemokine genes, their receptors, and CD14 gene with coronary atherosclerosis].	Nasibullin TR et al.	2016	Genetika
29729320	CCR5Δ32 - A piece of protection in the inflammatory puzzle of multiple sclerosis susceptibility.	Troncoso LL et al.	2018	Human immunology
30389547	Human CCR5Δ32 (rs333) polymorphism has no influence on severity and mortality of influenza A(H1N1)pdm09 infection in Brazilian patients from the post pandemic period.	Matos AR et al.	2019	Infection, genetics and evolution
31030250	Implication of HMOX1 and CCR5 genotypes on clinical phenotype of Egyptian patients with sickle cell anemia.	Bakr S et al.	2019	Annals of hematology
31148855	Evaluation of HCP5 and Chemokine C Receptor type 5 Gene Polymorphisms in Indian Psoriatic Patients.	Rajesh D et al.	2019	Indian journal of dermatology
31183980	CCR5 genetic variants and epidemiological determinants for HPV infection and cervical premalignant lesions.	Mangieri LFL et al.	2019	International journal of immunogenetics
31396258	Host Genetics of Cytomegalovirus Pathogenesis.	Sezgin E et al.	2019	Frontiers in genetics
31479868	Association of single nucleotide polymorphisms in TNFA and CCR5 genes with Japanese Encephalitis: A study from an endemic region of North India.	Deval H et al.	2019	Journal of neuroimmunology
32145532	CCR5 and CXCL12 allelic variants: Possible association with childhood neuroblastoma susceptibility?	Vieira-Filho DRM et al.	2020	Journal of neuroimmunology
32214033	The Role of MECP2 and CCR5 Polymorphisms on the Development and Course of Systemic Lupus Erythematosus.	Rzeszotarska E et al.	2020	Biomolecules
33166788	High circulating SDF-1and MCP-1 levels and genetic variations in CXCL12, CCL2 and CCR5: Prognostic signature of immune recovery status in treated HIV-positive patients.	Yeregui E et al.	2020	EBioMedicine
34178806	Evaluating the Association between CCR5delta32 Polymorphism (rs333) and the Risk of Breast Cancer in a Cohort of Iranian Population.	Tajbakhsh A et al.	2021	Iranian journal of public health
35301180	A genome-wide association study of outcome from traumatic brain injury.	Kals M et al.	2022	EBioMedicine
35393538	Abstracts from the 54(th) European Society of Human Genetics (ESHG) Conference: e-Posters.		2022	European journal of human genetics
35476033	A Preventive Role of RANTES Genetic Variation against Undifferentiated Schizophrenia.	Saoud H et al.	2022	Immunological investigations
35793369	Genetic polymorphisms associated with susceptibility to COVID-19 disease and severity: A systematic review and meta-analysis.	Dieter C et al.	2022	PloS one
35987511	Systematic review and meta-analysis of human genetic variants contributing to COVID-19 susceptibility and severity.	Gupta K et al.	2022	Gene
36012436	Allelic Variations in the Human Genes TMPRSS2 and CCR5, and the Resistance to Viral Infection by SARS-CoV-2.	Vitello GA et al.	2022	International journal of molecular sciences
37629534	Narrowing the Relationship between Human CCR5 Gene Polymorphisms and Chagas Disease: Systematic Review and Meta-Analysis.	Ferreira JM et al.	2023	Life (Basel, Switzerland)

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

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Reference SNP (rs) Report

rs333