Name: rs9153
Published: September 21, 2022
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.

rs9153

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:23766225 (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: G>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.202131 (53502/264690, TOPMED)
G=0.24569 (19308/78586, PAGE_STUDY)
G=0.18322 (9197/50196, ALFA) (+ 15 more)
G=0.37264 (10524/28242, 14KJPN)
G=0.37006 (6197/16746, 8.3KJPN)
G=0.19499 (2536/13006, GO-ESP)
G=0.2639 (1690/6404, 1000G_30x)
G=0.2702 (1353/5008, 1000G)
G=0.2167 (971/4480, Estonian)
G=0.1518 (585/3854, ALSPAC)
G=0.1524 (565/3708, TWINSUK)
G=0.3852 (1124/2918, KOREAN)
G=0.160 (96/600, NorthernSweden)
G=0.125 (67/534, MGP)
G=0.206 (101/490, SGDP_PRJ)
G=0.259 (56/216, Qatari)
G=0.20 (11/56, Siberian)
G=0.12 (5/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CHCHD10 : Stop Gained
C22orf15 : 500B Downstream Variant
LOC107985577 :
Publications: 0 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	65806	G=0.18366	A=0.81634, C=0.00000, T=0.00000	0.038142	0.67082	0.291037	16
European	Sub	49708	G=0.17456	A=0.82544, C=0.00000, T=0.00000	0.033234	0.684115	0.282651	5
African	Sub	6232	G=0.2527	A=0.7473, C=0.0000, T=0.0000	0.078626	0.573171	0.348203	11
African Others	Sub	214	G=0.238	A=0.762, C=0.000, T=0.000	0.065421	0.588785	0.345794	0
African American	Sub	6018	G=0.2532	A=0.7468, C=0.0000, T=0.0000	0.079096	0.572615	0.348288	11
Asian	Sub	120	G=0.408	A=0.592, C=0.000, T=0.000	0.216667	0.4	0.383333	2
East Asian	Sub	84	G=0.43	A=0.57, C=0.00, T=0.00	0.238095	0.380952	0.380952	1
Other Asian	Sub	36	G=0.36	A=0.64, C=0.00, T=0.00	0.166667	0.444444	0.388889	0
Latin American 1	Sub	376	G=0.239	A=0.761, C=0.000, T=0.000	0.06383	0.585106	0.351064	0
Latin American 2	Sub	124	G=0.387	A=0.613, C=0.000, T=0.000	0.274194	0.5	0.225806	10
South Asian	Sub	42	G=0.64	A=0.36, C=0.00, T=0.00	0.380952	0.095238	0.52381	0
Other	Sub	9204	G=0.1760	A=0.8240, C=0.0000, T=0.0000	0.029118	0.677097	0.293785	0

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
TopMed	Global	Study-wide	264690	G=0.202131	A=0.797869
The PAGE Study	Global	Study-wide	78586	G=0.24569	A=0.75431
The PAGE Study	AfricanAmerican	Sub	32448	G=0.24205	A=0.75795
The PAGE Study	Mexican	Sub	10808	G=0.18792	A=0.81208
The PAGE Study	Asian	Sub	8304	G=0.3768	A=0.6232
The PAGE Study	PuertoRican	Sub	7910	G=0.2080	A=0.7920
The PAGE Study	NativeHawaiian	Sub	4526	G=0.4191	A=0.5809
The PAGE Study	Cuban	Sub	4228	G=0.1802	A=0.8198
The PAGE Study	Dominican	Sub	3824	G=0.1951	A=0.8049
The PAGE Study	CentralAmerican	Sub	2446	G=0.1509	A=0.8491
The PAGE Study	SouthAmerican	Sub	1980	G=0.1439	A=0.8561
The PAGE Study	NativeAmerican	Sub	1258	G=0.1940	A=0.8060
The PAGE Study	SouthAsian	Sub	854	G=0.405	A=0.595
Allele Frequency Aggregator	Total	Global	50196	G=0.18322	A=0.81678, C=0.00000, T=0.00000
Allele Frequency Aggregator	European	Sub	40200	G=0.17841	A=0.82159, C=0.00000, T=0.00000
Allele Frequency Aggregator	Other	Sub	7848	G=0.1744	A=0.8256, C=0.0000, T=0.0000
Allele Frequency Aggregator	African	Sub	1486	G=0.2974	A=0.7026, C=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	376	G=0.239	A=0.761, C=0.000, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	124	G=0.387	A=0.613, C=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	120	G=0.408	A=0.592, C=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	42	G=0.64	A=0.36, C=0.00, T=0.00
14KJPN	JAPANESE	Study-wide	28242	G=0.37264	A=0.62736
8.3KJPN	JAPANESE	Study-wide	16746	G=0.37006	A=0.62994
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.19499	A=0.80501
GO Exome Sequencing Project	European American	Sub	8600	G=0.1676	A=0.8324
GO Exome Sequencing Project	African American	Sub	4406	G=0.2485	A=0.7515
1000Genomes_30x	Global	Study-wide	6404	G=0.2639	A=0.7361
1000Genomes_30x	African	Sub	1786	G=0.2486	A=0.7514
1000Genomes_30x	Europe	Sub	1266	G=0.1603	A=0.8397
1000Genomes_30x	South Asian	Sub	1202	G=0.4226	A=0.5774
1000Genomes_30x	East Asian	Sub	1170	G=0.3308	A=0.6692
1000Genomes_30x	American	Sub	980	G=0.151	A=0.849
1000Genomes	Global	Study-wide	5008	G=0.2702	A=0.7298
1000Genomes	African	Sub	1322	G=0.2466	A=0.7534
1000Genomes	East Asian	Sub	1008	G=0.3353	A=0.6647
1000Genomes	Europe	Sub	1006	G=0.1630	A=0.8370
1000Genomes	South Asian	Sub	978	G=0.427	A=0.573
1000Genomes	American	Sub	694	G=0.154	A=0.846
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.2167	A=0.7833
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.1518	A=0.8482
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.1524	A=0.8476
KOREAN population from KRGDB	KOREAN	Study-wide	2918	G=0.3852	A=0.6148, C=0.0000
Northern Sweden	ACPOP	Study-wide	600	G=0.160	A=0.840
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.125	A=0.875
SGDP_PRJ	Global	Study-wide	490	G=0.206	A=0.794
Qatari	Global	Study-wide	216	G=0.259	A=0.741
Siberian	Global	Study-wide	56	G=0.20	A=0.80
The Danish reference pan genome	Danish	Study-wide	40	G=0.12	A=0.88

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 22	NC_000022.11:g.23766225G>A
GRCh38.p14 chr 22	NC_000022.11:g.23766225G>C
GRCh38.p14 chr 22	NC_000022.11:g.23766225G>T
GRCh37.p13 chr 22	NC_000022.10:g.24108412G>A
GRCh37.p13 chr 22	NC_000022.10:g.24108412G>C
GRCh37.p13 chr 22	NC_000022.10:g.24108412G>T
CHCHD10 RefSeqGene	NG_034223.1:g.6748C>T
CHCHD10 RefSeqGene	NG_034223.1:g.6748C>G
CHCHD10 RefSeqGene	NG_034223.1:g.6748C>A
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG7	NT_187633.1:g.2587G>A
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG7	NT_187633.1:g.2587G>C
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG7	NT_187633.1:g.2587G>T

Gene: C22orf15, chromosome 22 open reading frame 15 (plus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
C22orf15 transcript variant 2	NM_001331041.2:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant 3	NM_001376903.1:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant 4	NM_001376904.1:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant 5	NM_001376905.1:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant 1	NM_182520.3:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant X3	XM_011529908.3:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant X4	XM_017028612.2:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant X1	XM_024452160.2:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant X2	XM_024452161.2:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant X5	XM_047441152.1:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant X7	XM_047441153.1:c.	N/A	Downstream Transcript Variant
C22orf15 transcript variant X6	XM_017028618.2:c.	N/A	N/A

Gene: CHCHD10, coiled-coil-helix-coiled-coil-helix domain containing 10 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CHCHD10 transcript variant 2	NM_213720.3:c.312C>T	Y [TAC] > Y [TAT]	Coding Sequence Variant
coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform b precursor	NP_998885.1:p.Tyr104=	Y (Tyr) > Y (Tyr)	Synonymous Variant
CHCHD10 transcript variant 2	NM_213720.3:c.312C>G	Y [TAC] > * [TAG]	Coding Sequence Variant
coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform b precursor	NP_998885.1:p.Tyr104Ter	Y (Tyr) > * (Ter)	Stop Gained
CHCHD10 transcript variant 2	NM_213720.3:c.312C>A	Y [TAC] > * [TAA]	Coding Sequence Variant
coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform b precursor	NP_998885.1:p.Tyr104Ter	Y (Tyr) > * (Ter)	Stop Gained
CHCHD10 transcript variant 1	NM_001301339.2:c.333C>T	Y [TAC] > Y [TAT]	Coding Sequence Variant
coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform a	NP_001288268.1:p.Tyr111=	Y (Tyr) > Y (Tyr)	Synonymous Variant
CHCHD10 transcript variant 1	NM_001301339.2:c.333C>G	Y [TAC] > * [TAG]	Coding Sequence Variant
coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform a	NP_001288268.1:p.Tyr111Ter	Y (Tyr) > * (Ter)	Stop Gained
CHCHD10 transcript variant 1	NM_001301339.2:c.333C>A	Y [TAC] > * [TAA]	Coding Sequence Variant
coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform a	NP_001288268.1:p.Tyr111Ter	Y (Tyr) > * (Ter)	Stop Gained
CHCHD10 transcript variant 3	NR_125755.2:n.357C>T	N/A	Non Coding Transcript Variant
CHCHD10 transcript variant 3	NR_125755.2:n.357C>G	N/A	Non Coding Transcript Variant
CHCHD10 transcript variant 3	NR_125755.2:n.357C>A	N/A	Non Coding Transcript Variant
CHCHD10 transcript variant 4	NR_125756.2:n.190C>T	N/A	Non Coding Transcript Variant
CHCHD10 transcript variant 4	NR_125756.2:n.190C>G	N/A	Non Coding Transcript Variant
CHCHD10 transcript variant 4	NR_125756.2:n.190C>A	N/A	Non Coding Transcript Variant

Gene: LOC107985577, uncharacterized LOC107985577 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC107985577 transcript variant X1	XR_001755453.2:n.	N/A	N/A
LOC107985577 transcript variant X3	XR_001755454.2:n.	N/A	N/A
LOC107985577 transcript variant X2	XR_007068022.1:n.	N/A	N/A

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: A (allele ID: 378642 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000422642.6	not specified	Benign
RCV000990377.3	Lower motor neuron syndrome with late-adult onset	Benign
RCV001518488.4	Autosomal dominant mitochondrial myopathy with exercise intolerance,Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,Lower motor neuron syndrome with late-adult onset	Benign
RCV001578883.2	Autosomal dominant mitochondrial myopathy with exercise intolerance	Benign
RCV001578884.2	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Benign

Allele: C (allele ID: 573956 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000685394.3	Autosomal dominant mitochondrial myopathy with exercise intolerance,Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,Lower motor neuron syndrome with late-adult onset	Uncertain-Significance
RCV001268858.1	not provided	Likely-Pathogenic

Allele: T (allele ID: 571718 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000690469.3	Autosomal dominant mitochondrial myopathy with exercise intolerance,Frontotemporal dementia and/or amyotrophic lateral sclerosis 2,Lower motor neuron syndrome with late-adult onset	Uncertain-Significance

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	G=	A	C	T
GRCh38.p14 chr 22	NC_000022.11:g.23766225=	NC_000022.11:g.23766225G>A	NC_000022.11:g.23766225G>C	NC_000022.11:g.23766225G>T
GRCh37.p13 chr 22	NC_000022.10:g.24108412=	NC_000022.10:g.24108412G>A	NC_000022.10:g.24108412G>C	NC_000022.10:g.24108412G>T
CHCHD10 RefSeqGene	NG_034223.1:g.6748=	NG_034223.1:g.6748C>T	NG_034223.1:g.6748C>G	NG_034223.1:g.6748C>A
CHCHD10 transcript variant 2	NM_213720.3:c.312=	NM_213720.3:c.312C>T	NM_213720.3:c.312C>G	NM_213720.3:c.312C>A
CHCHD10 transcript variant 2	NM_213720.2:c.312=	NM_213720.2:c.312C>T	NM_213720.2:c.312C>G	NM_213720.2:c.312C>A
CHCHD10 transcript	NM_213720.1:c.312=	NM_213720.1:c.312C>T	NM_213720.1:c.312C>G	NM_213720.1:c.312C>A
CHCHD10 transcript variant 1	NM_001301339.2:c.333=	NM_001301339.2:c.333C>T	NM_001301339.2:c.333C>G	NM_001301339.2:c.333C>A
CHCHD10 transcript variant 1	NM_001301339.1:c.333=	NM_001301339.1:c.333C>T	NM_001301339.1:c.333C>G	NM_001301339.1:c.333C>A
CHCHD10 transcript variant 3	NR_125755.2:n.357=	NR_125755.2:n.357C>T	NR_125755.2:n.357C>G	NR_125755.2:n.357C>A
CHCHD10 transcript variant 3	NR_125755.1:n.357=	NR_125755.1:n.357C>T	NR_125755.1:n.357C>G	NR_125755.1:n.357C>A
CHCHD10 transcript variant 4	NR_125756.2:n.190=	NR_125756.2:n.190C>T	NR_125756.2:n.190C>G	NR_125756.2:n.190C>A
CHCHD10 transcript variant 4	NR_125756.1:n.190=	NR_125756.1:n.190C>T	NR_125756.1:n.190C>G	NR_125756.1:n.190C>A
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG7	NT_187633.1:g.2587=	NT_187633.1:g.2587G>A	NT_187633.1:g.2587G>C	NT_187633.1:g.2587G>T
coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform b precursor	NP_998885.1:p.Tyr104=	NP_998885.1:p.Tyr104=	NP_998885.1:p.Tyr104Ter	NP_998885.1:p.Tyr104Ter
coiled-coil-helix-coiled-coil-helix domain-containing protein 10, mitochondrial isoform a	NP_001288268.1:p.Tyr111=	NP_001288268.1:p.Tyr111=	NP_001288268.1:p.Tyr111Ter	NP_001288268.1:p.Tyr111Ter

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#.

133 SubSNP, 26 Frequency, 8 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	CGAP-GAI	ss11214	Sep 19, 2000 (52)
2	SC	ss139123	Jun 24, 2000 (78)
3	KWOK	ss238639	Jul 12, 2000 (85)
4	KWOK	ss1269837	Oct 04, 2000 (86)
5	LEE	ss1522150	Oct 04, 2000 (86)
6	KWOK	ss2068211	Oct 18, 2000 (87)
7	YUSUKE	ss3243188	Sep 28, 2001 (100)
8	LEE	ss4413568	May 29, 2002 (106)
9	BCM_SSAHASNP	ss11000002	Sep 28, 2016 (149)
10	SC_SNP	ss13364443	Sep 28, 2016 (149)
11	CGAP-GAI	ss16255490	Feb 27, 2004 (120)
12	CSHL-HAPMAP	ss17715733	Sep 28, 2016 (149)
13	CSHL-HAPMAP	ss19495874	Sep 28, 2016 (149)
14	SSAHASNP	ss21856880	Sep 28, 2016 (149)
15	HGSV	ss77388715	Aug 21, 2014 (142)
16	BCMHGSC_JDW	ss91890077	Aug 21, 2014 (142)
17	HUMANGENOME_JCVI	ss96094698	Feb 06, 2009 (130)
18	BGI	ss103846751	Dec 01, 2009 (142)
19	ILLUMINA-UK	ss117372469	Feb 14, 2009 (130)
20	ENSEMBL	ss138340090	Dec 01, 2009 (142)
21	ENSEMBL	ss143971324	Dec 01, 2009 (142)
22	GMI	ss157071283	Dec 01, 2009 (142)
23	SEATTLESEQ	ss159744022	Dec 01, 2009 (142)
24	COMPLETE_GENOMICS	ss167744867	Jul 04, 2010 (142)
25	COMPLETE_GENOMICS	ss168970896	Jul 04, 2010 (142)
26	ILLUMINA	ss169130120	Jul 04, 2010 (142)
27	BUSHMAN	ss204059677	Jul 04, 2010 (142)
28	BCM-HGSC-SUB	ss208843326	Jul 04, 2010 (142)
29	1000GENOMES	ss212106711	Jul 14, 2010 (142)
30	1000GENOMES	ss228632780	Jul 14, 2010 (142)
31	1000GENOMES	ss238033238	Jul 15, 2010 (142)
32	1000GENOMES	ss244160647	Jul 15, 2010 (142)
33	BL	ss255858321	May 09, 2011 (142)
34	GMI	ss283600698	May 04, 2012 (142)
35	GMI	ss287554442	Apr 25, 2013 (142)
36	PJP	ss292742353	May 09, 2011 (142)
37	NHLBI-ESP	ss342538244	May 09, 2011 (142)
38	ILLUMINA	ss483364681	May 04, 2012 (142)
39	ILLUMINA	ss484293374	May 04, 2012 (142)
40	1000GENOMES	ss491189386	May 04, 2012 (142)
41	CLINSEQ_SNP	ss491821150	May 04, 2012 (142)
42	ILLUMINA	ss535577995	Sep 08, 2015 (146)
43	TISHKOFF	ss566579031	Apr 25, 2013 (142)
44	SSMP	ss662507285	Apr 25, 2013 (142)
45	ILLUMINA	ss780249735	Sep 08, 2015 (146)
46	ILLUMINA	ss782125501	Sep 08, 2015 (146)
47	ILLUMINA	ss835735368	Sep 08, 2015 (146)
48	JMKIDD_LAB	ss974512253	Aug 21, 2014 (142)
49	EVA-GONL	ss995252525	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1067604630	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss1082589903	Aug 21, 2014 (142)
52	1000GENOMES	ss1366800623	Aug 21, 2014 (142)
53	DDI	ss1429230299	Apr 01, 2015 (144)
54	EVA_GENOME_DK	ss1579715611	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1639804341	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1682798374	Apr 01, 2015 (144)
57	EVA_EXAC	ss1694266643	Apr 01, 2015 (144)
58	EVA_EXAC	ss1694266644	Apr 01, 2015 (144)
59	EVA_DECODE	ss1699320830	Apr 01, 2015 (144)
60	EVA_MGP	ss1711563697	Apr 01, 2015 (144)
61	HAMMER_LAB	ss1809747295	Sep 08, 2015 (146)
62	WEILL_CORNELL_DGM	ss1938818856	Feb 12, 2016 (147)
63	ILLUMINA	ss1959969280	Feb 12, 2016 (147)
64	ILLUMINA	ss1959969282	Feb 12, 2016 (147)
65	GENOMED	ss1969253285	Jul 19, 2016 (147)
66	JJLAB	ss2030181818	Sep 14, 2016 (149)
67	USC_VALOUEV	ss2158793963	Dec 20, 2016 (150)
68	HUMAN_LONGEVITY	ss2246618391	Dec 20, 2016 (150)
69	SYSTEMSBIOZJU	ss2629589418	Nov 08, 2017 (151)
70	ILLUMINA	ss2633865753	Nov 08, 2017 (151)
71	GRF	ss2704542176	Nov 08, 2017 (151)
72	GNOMAD	ss2745015650	Nov 08, 2017 (151)
73	GNOMAD	ss2750517444	Nov 08, 2017 (151)
74	GNOMAD	ss2973350362	Nov 08, 2017 (151)
75	SWEGEN	ss3019149621	Nov 08, 2017 (151)
76	ILLUMINA	ss3022175507	Nov 08, 2017 (151)
77	ILLUMINA	ss3022175508	Nov 08, 2017 (151)
78	BIOINF_KMB_FNS_UNIBA	ss3028928260	Nov 08, 2017 (151)
79	CSHL	ss3352793431	Nov 08, 2017 (151)
80	ILLUMINA	ss3625800255	Oct 12, 2018 (152)
81	ILLUMINA	ss3628511511	Oct 12, 2018 (152)
82	ILLUMINA	ss3631817776	Oct 12, 2018 (152)
83	ILLUMINA	ss3638376425	Oct 12, 2018 (152)
84	ILLUMINA	ss3642212398	Oct 12, 2018 (152)
85	OMUKHERJEE_ADBS	ss3646564497	Oct 12, 2018 (152)
86	URBANLAB	ss3651159397	Oct 12, 2018 (152)
87	ILLUMINA	ss3652637306	Oct 12, 2018 (152)
88	ILLUMINA	ss3652637307	Oct 12, 2018 (152)
89	EGCUT_WGS	ss3685654866	Jul 13, 2019 (153)
90	EVA_DECODE	ss3708011068	Jul 13, 2019 (153)
91	ILLUMINA	ss3725959597	Jul 13, 2019 (153)
92	ACPOP	ss3743849991	Jul 13, 2019 (153)
93	EVA	ss3759267163	Jul 13, 2019 (153)
94	PAGE_CC	ss3772084147	Jul 13, 2019 (153)
95	PACBIO	ss3788802348	Jul 13, 2019 (153)
96	PACBIO	ss3793672327	Jul 13, 2019 (153)
97	PACBIO	ss3798558711	Jul 13, 2019 (153)
98	KHV_HUMAN_GENOMES	ss3822434494	Jul 13, 2019 (153)
99	EVA	ss3825430556	Apr 27, 2020 (154)
100	EVA	ss3825967091	Apr 27, 2020 (154)
101	EVA	ss3835942548	Apr 27, 2020 (154)
102	EVA	ss3841599757	Apr 27, 2020 (154)
103	EVA	ss3847114120	Apr 27, 2020 (154)
104	SGDP_PRJ	ss3890347014	Apr 27, 2020 (154)
105	KRGDB	ss3940737714	Apr 27, 2020 (154)
106	FSA-LAB	ss3984231761	Apr 26, 2021 (155)
107	EVA	ss3986087128	Apr 26, 2021 (155)
108	EVA	ss3986856508	Apr 26, 2021 (155)
109	VINODS	ss4034756286	Apr 26, 2021 (155)
110	TOPMED	ss5106032747	Apr 26, 2021 (155)
111	TOMMO_GENOMICS	ss5232197980	Apr 26, 2021 (155)
112	EVA	ss5236989547	Apr 26, 2021 (155)
113	EVA	ss5237255308	Apr 26, 2021 (155)
114	1000G_HIGH_COVERAGE	ss5310773658	Oct 16, 2022 (156)
115	EVA	ss5316048730	Oct 16, 2022 (156)
116	EVA	ss5440717900	Oct 16, 2022 (156)
117	HUGCELL_USP	ss5502651950	Oct 16, 2022 (156)
118	EVA	ss5512353399	Oct 16, 2022 (156)
119	1000G_HIGH_COVERAGE	ss5618181045	Oct 16, 2022 (156)
120	EVA	ss5623983283	Oct 16, 2022 (156)
121	EVA	ss5624120949	Oct 16, 2022 (156)
122	SANFORD_IMAGENETICS	ss5664310290	Oct 16, 2022 (156)
123	TOMMO_GENOMICS	ss5793184349	Oct 16, 2022 (156)
124	EVA	ss5800075522	Oct 16, 2022 (156)
125	EVA	ss5800234956	Oct 16, 2022 (156)
126	YY_MCH	ss5818628076	Oct 16, 2022 (156)
127	EVA	ss5821942929	Oct 16, 2022 (156)
128	EVA	ss5848564238	Oct 16, 2022 (156)
129	EVA	ss5853358631	Oct 16, 2022 (156)
130	EVA	ss5881456653	Oct 16, 2022 (156)
131	EVA	ss5936579893	Oct 16, 2022 (156)
132	EVA	ss5959163119	Oct 16, 2022 (156)
133	EVA	ss5981321333	Oct 16, 2022 (156)
134	1000Genomes	NC_000022.10 - 24108412	Oct 12, 2018 (152)
135	1000Genomes_30x	NC_000022.11 - 23766225	Oct 16, 2022 (156)
136	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 24108412	Oct 12, 2018 (152)
137	Genetic variation in the Estonian population	NC_000022.10 - 24108412	Oct 12, 2018 (152)
138	ExAC Submission ignored due to conflicting rows: Row 5841806 (NC_000022.10:24108411:G:G 20051/89750, NC_000022.10:24108411:G:A 69699/89750) Row 5841807 (NC_000022.10:24108411:G:G 89749/89750, NC_000022.10:24108411:G:C 1/89750)	-	Oct 12, 2018 (152)
139	ExAC Submission ignored due to conflicting rows: Row 5841806 (NC_000022.10:24108411:G:G 20051/89750, NC_000022.10:24108411:G:A 69699/89750) Row 5841807 (NC_000022.10:24108411:G:G 89749/89750, NC_000022.10:24108411:G:C 1/89750)	-	Oct 12, 2018 (152)
140	The Danish reference pan genome	NC_000022.10 - 24108412	Apr 27, 2020 (154)
141	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567348396 (NC_000022.11:23766224:G:A 111611/138460) Row 567348397 (NC_000022.11:23766224:G:C 5/138516) Row 567348398 (NC_000022.11:23766224:G:T 2/138518)	-	Apr 26, 2021 (155)
142	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567348396 (NC_000022.11:23766224:G:A 111611/138460) Row 567348397 (NC_000022.11:23766224:G:C 5/138516) Row 567348398 (NC_000022.11:23766224:G:T 2/138518)	-	Apr 26, 2021 (155)
143	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567348396 (NC_000022.11:23766224:G:A 111611/138460) Row 567348397 (NC_000022.11:23766224:G:C 5/138516) Row 567348398 (NC_000022.11:23766224:G:T 2/138518)	-	Apr 26, 2021 (155)
144	gnomAD - Exomes Submission ignored due to conflicting rows: Row 14345668 (NC_000022.10:24108411:G:G 48533/220022, NC_000022.10:24108411:G:A 171489/220022) Row 14345669 (NC_000022.10:24108411:G:G 220019/220022, NC_000022.10:24108411:G:C 3/220022) Row 14345670 (NC_000022.10:24108411:G:G 220021/220022, NC_000022.10:24108411:G:T 1/220022)	-	Jul 13, 2019 (153)
145	gnomAD - Exomes Submission ignored due to conflicting rows: Row 14345668 (NC_000022.10:24108411:G:G 48533/220022, NC_000022.10:24108411:G:A 171489/220022) Row 14345669 (NC_000022.10:24108411:G:G 220019/220022, NC_000022.10:24108411:G:C 3/220022) Row 14345670 (NC_000022.10:24108411:G:G 220021/220022, NC_000022.10:24108411:G:T 1/220022)	-	Jul 13, 2019 (153)
146	gnomAD - Exomes Submission ignored due to conflicting rows: Row 14345668 (NC_000022.10:24108411:G:G 48533/220022, NC_000022.10:24108411:G:A 171489/220022) Row 14345669 (NC_000022.10:24108411:G:G 220019/220022, NC_000022.10:24108411:G:C 3/220022) Row 14345670 (NC_000022.10:24108411:G:G 220021/220022, NC_000022.10:24108411:G:T 1/220022)	-	Jul 13, 2019 (153)
147	GO Exome Sequencing Project	NC_000022.10 - 24108412	Oct 12, 2018 (152)
148	KOREAN population from KRGDB	NC_000022.10 - 24108412	Apr 27, 2020 (154)
149	Medical Genome Project healthy controls from Spanish population	NC_000022.10 - 24108412	Apr 27, 2020 (154)
150	Northern Sweden	NC_000022.10 - 24108412	Jul 13, 2019 (153)
151	The PAGE Study	NC_000022.11 - 23766225	Jul 13, 2019 (153)
152	Qatari	NC_000022.10 - 24108412	Apr 27, 2020 (154)
153	SGDP_PRJ	NC_000022.10 - 24108412	Apr 27, 2020 (154)
154	Siberian	NC_000022.10 - 24108412	Apr 27, 2020 (154)
155	8.3KJPN	NC_000022.10 - 24108412	Apr 26, 2021 (155)
156	14KJPN	NC_000022.11 - 23766225	Oct 16, 2022 (156)
157	TopMed	NC_000022.11 - 23766225	Apr 26, 2021 (155)
158	UK 10K study - Twins	NC_000022.10 - 24108412	Oct 12, 2018 (152)
159	ALFA	NC_000022.11 - 23766225	Apr 26, 2021 (155)
160	ClinVar	RCV000422642.6	Oct 16, 2022 (156)
161	ClinVar	RCV000685394.3	Oct 16, 2022 (156)
162	ClinVar	RCV000690469.3	Oct 16, 2022 (156)
163	ClinVar	RCV000990377.3	Oct 16, 2022 (156)
164	ClinVar	RCV001268858.1	Apr 26, 2021 (155)
165	ClinVar	RCV001518488.4	Oct 16, 2022 (156)
166	ClinVar	RCV001578883.2	Oct 16, 2022 (156)
167	ClinVar	RCV001578884.2	Oct 16, 2022 (156)

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)
rs179466	Sep 19, 2000 (85)
rs3188914	Jul 03, 2002 (106)
rs17171327	May 26, 2008 (130)
rs80027270	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77388715	NC_000022.8:22432965:G:A	NC_000022.11:23766224:G:A	(self)
ss91890077, ss117372469, ss167744867, ss168970896, ss204059677, ss208843326, ss212106711, ss255858321, ss283600698, ss287554442, ss292742353, ss484293374, ss491821150, ss1699320830	NC_000022.9:22438411:G:A	NC_000022.11:23766224:G:A	(self)
80339088, 44438020, 31393114, 5880550, 1887403, 47915108, 679457, 17134856, 20860778, 42363994, 11310317, 90167287, 44438020, ss228632780, ss238033238, ss244160647, ss342538244, ss483364681, ss491189386, ss535577995, ss566579031, ss662507285, ss780249735, ss782125501, ss835735368, ss974512253, ss995252525, ss1067604630, ss1082589903, ss1366800623, ss1429230299, ss1579715611, ss1639804341, ss1682798374, ss1694266643, ss1711563697, ss1809747295, ss1938818856, ss1959969280, ss1959969282, ss1969253285, ss2030181818, ss2158793963, ss2629589418, ss2633865753, ss2704542176, ss2745015650, ss2750517444, ss2973350362, ss3019149621, ss3022175507, ss3022175508, ss3352793431, ss3625800255, ss3628511511, ss3631817776, ss3638376425, ss3642212398, ss3646564497, ss3652637306, ss3652637307, ss3685654866, ss3743849991, ss3759267163, ss3788802348, ss3793672327, ss3798558711, ss3825430556, ss3825967091, ss3835942548, ss3841599757, ss3890347014, ss3940737714, ss3984231761, ss3986087128, ss3986856508, ss5232197980, ss5316048730, ss5440717900, ss5512353399, ss5623983283, ss5624120949, ss5664310290, ss5800075522, ss5800234956, ss5821942929, ss5848564238, ss5936579893, ss5959163119, ss5981321333	NC_000022.10:24108411:G:A	NC_000022.11:23766224:G:A	(self)
RCV000422642.6, RCV000990377.3, RCV001518488.4, RCV001578883.2, RCV001578884.2, 105706980, 1305616, 127021453, 381141694, 14069583412, ss2246618391, ss3028928260, ss3651159397, ss3708011068, ss3725959597, ss3772084147, ss3822434494, ss3847114120, ss5106032747, ss5236989547, ss5237255308, ss5310773658, ss5502651950, ss5618181045, ss5793184349, ss5818628076, ss5853358631, ss5881456653	NC_000022.11:23766224:G:A	NC_000022.11:23766224:G:A	(self)
ss11000002, ss13364443, ss17715733, ss19495874, ss21856880	NT_011520.9:3498980:G:A	NC_000022.11:23766224:G:A	(self)
ss11214, ss139123, ss238639, ss1269837, ss1522150, ss2068211, ss3243188, ss4413568, ss16255490, ss96094698, ss103846751, ss138340090, ss143971324, ss157071283, ss159744022, ss169130120	NT_011520.12:3498980:G:A	NC_000022.11:23766224:G:A	(self)
ss4034756286	NT_187633.1:2586:G:A	NC_000022.11:23766224:G:A	(self)
47915108, ss1694266644, ss2745015650, ss2750517444, ss2973350362, ss3940737714	NC_000022.10:24108411:G:C	NC_000022.11:23766224:G:C	(self)
RCV000685394.3, RCV001268858.1, 14069583412	NC_000022.11:23766224:G:C	NC_000022.11:23766224:G:C	(self)
ss2745015650	NC_000022.10:24108411:G:T	NC_000022.11:23766224:G:T	(self)
RCV000690469.3, 14069583412, ss2246618391	NC_000022.11:23766224:G:T	NC_000022.11:23766224:G:T	(self)

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

No publications for rs9153

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

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs9153