Name: rs4124874
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.

rs4124874

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr2:233757013 (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: T>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.436284 (115480/264690, TOPMED)
G=0.460155 (96085/208810, ALFA)
T=0.443858 (65707/148036, GnomAD_genomes) (+ 18 more)
G=0.24549 (19011/77442, 38KJPN)
G=0.2846 (2059/7234, Korea4K)
T=0.4024 (2577/6404, 1000G_30X)
T=0.4119 (2063/5008, 1000G)
G=0.4460 (1719/3854, ALSPAC)
G=0.4310 (1598/3708, TWINSUK)
G=0.2846 (834/2930, KOREAN)
T=0.3873 (732/1890, HapMap)
G=0.2904 (532/1832, Korea1K)
G=0.4511 (637/1412, PharmGKB)
G=0.424 (423/998, GoNL)
G=0.309 (243/786, PRJEB37584)
G=0.418 (251/600, NorthernSweden)
T=0.286 (114/398, SGDP_PRJ)
T=0.384 (83/216, Qatari)
G=0.332 (71/214, Vietnamese)
G=0.37 (20/54, Ancient Sardinia)
T=0.37 (11/30, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: UGT1A10 : Intron Variant
UGT1A3 : Intron Variant
UGT1A4 : Intron Variant (+ 6 more)
UGT1A5 : Intron Variant
UGT1A6 : Intron Variant
UGT1A7 : Intron Variant
UGT1A8 : Intron Variant
UGT1A9 : Intron Variant
LOC100286922 : 2KB Upstream Variant
Publications: 40 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	208810	T=0.539845	A=0.000000, G=0.460155	0.298798	0.219108	0.482094	32
European	Sub	186348	T=0.556883	A=0.000000, G=0.443117	0.312265	0.1985	0.489235	4
African	Sub	7338	T=0.1968	A=0.0000, G=0.8032	0.043881	0.650313	0.305805	3
African Others	Sub	238	T=0.105	A=0.000, G=0.895	0.033613	0.823529	0.142857	4
African American	Sub	7100	T=0.1999	A=0.0000, G=0.8001	0.044225	0.644507	0.311268	2
Asian	Sub	688	T=0.706	A=0.000, G=0.294	0.5	0.087209	0.412791	0
East Asian	Sub	558	T=0.704	A=0.000, G=0.296	0.498208	0.089606	0.412186	0
Other Asian	Sub	130	T=0.715	A=0.000, G=0.285	0.507692	0.076923	0.415385	0
Latin American 1	Sub	642	T=0.525	A=0.000, G=0.475	0.28972	0.239875	0.470405	1
Latin American 2	Sub	2326	T=0.5490	A=0.0000, G=0.4510	0.315563	0.217541	0.466896	2
South Asian	Sub	4882	T=0.4111	A=0.0000, G=0.5889	0.164687	0.342483	0.492831	0
Other	Sub	6586	T=0.5162	A=0.0000, G=0.4838	0.275129	0.242636	0.482235	3

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.436284	G=0.563716
Allele Frequency Aggregator	Total	Global	208810	T=0.539845	A=0.000000, G=0.460155
Allele Frequency Aggregator	European	Sub	186348	T=0.556883	A=0.000000, G=0.443117
Allele Frequency Aggregator	African	Sub	7338	T=0.1968	A=0.0000, G=0.8032
Allele Frequency Aggregator	Other	Sub	6586	T=0.5162	A=0.0000, G=0.4838
Allele Frequency Aggregator	South Asian	Sub	4882	T=0.4111	A=0.0000, G=0.5889
Allele Frequency Aggregator	Latin American 2	Sub	2326	T=0.5490	A=0.0000, G=0.4510
Allele Frequency Aggregator	Asian	Sub	688	T=0.706	A=0.000, G=0.294
Allele Frequency Aggregator	Latin American 1	Sub	642	T=0.525	A=0.000, G=0.475
gnomAD v4 - Genomes	Global	Study-wide	148036	T=0.443858	G=0.556142
gnomAD v4 - Genomes	European	Sub	78114	T=0.55506	G=0.44494
gnomAD v4 - Genomes	African	Sub	41116	T=0.17974	G=0.82026
gnomAD v4 - Genomes	American	Sub	15194	T=0.51468	G=0.48532
gnomAD v4 - Genomes	East Asian	Sub	5114	T=0.6729	G=0.3271
gnomAD v4 - Genomes	South Asian	Sub	4742	T=0.4114	G=0.5886
gnomAD v4 - Genomes	Ashkenazi Jewish	Sub	3464	T=0.4622	G=0.5378
gnomAD v4 - Genomes	Middle Eastern	sub	292	T=0.500	G=0.500
38KJPN	JAPANESE	Study-wide	77442	T=0.75451	G=0.24549
Korean Genome Project 4K	KOREAN	Study-wide	7234	T=0.7154	G=0.2846
1000Genomes_30X	Global	Study-wide	6404	T=0.4024	G=0.5976
1000Genomes_30X	African	Sub	1786	T=0.1013	G=0.8987
1000Genomes_30X	Europe	Sub	1266	T=0.5750	G=0.4250
1000Genomes_30X	South Asian	Sub	1202	T=0.3702	G=0.6298
1000Genomes_30X	East Asian	Sub	1170	T=0.6444	G=0.3556
1000Genomes_30X	American	Sub	980	T=0.479	G=0.521
1000Genomes	Global	Study-wide	5008	T=0.4119	G=0.5881
1000Genomes	African	Sub	1322	T=0.1014	G=0.8986
1000Genomes	East Asian	Sub	1008	T=0.6438	G=0.3562
1000Genomes	Europe	Sub	1006	T=0.5845	G=0.4155
1000Genomes	South Asian	Sub	978	T=0.372	G=0.628
1000Genomes	American	Sub	694	T=0.473	G=0.527
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5540	G=0.4460
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5690	G=0.4310
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.7154	C=0.0000, G=0.2846
HapMap	Global	Study-wide	1890	T=0.3873	G=0.6127
HapMap	American	Sub	770	T=0.491	G=0.509
HapMap	African	Sub	690	T=0.125	G=0.875
HapMap	Asian	Sub	254	T=0.657	G=0.343
HapMap	Europe	Sub	176	T=0.574	G=0.426
Korean Genome Project	KOREAN	Study-wide	1832	T=0.7096	G=0.2904
PharmGKB Aggregated	Global	Study-wide	1412	T=0.5489	G=0.4511
PharmGKB Aggregated	PA142179933	Sub	588	T=0.605	G=0.395
PharmGKB Aggregated	PA147464076	Sub	350	T=0.531	G=0.469
PharmGKB Aggregated	PA129671574	Sub	170	T=0.529	G=0.471
PharmGKB Aggregated	PA129477356	Sub	160	T=0.463	G=0.537
PharmGKB Aggregated	PA130445551	Sub	144	T=0.479	G=0.521
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.576	G=0.424
CNV burdens in cranial meningiomas	Global	Study-wide	786	T=0.691	G=0.309
CNV burdens in cranial meningiomas	CRM	Sub	786	T=0.691	G=0.309
Northern Sweden	ACPOP	Study-wide	600	T=0.582	G=0.418
SGDP_PRJ	Global	Study-wide	398	T=0.286	G=0.714
Qatari	Global	Study-wide	216	T=0.384	G=0.616
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.668	G=0.332
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	54	T=0.63	G=0.37
Siberian	Global	Study-wide	30	T=0.37	G=0.63

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 2	NC_000002.12:g.233757013T>A
GRCh38.p14 chr 2	NC_000002.12:g.233757013T>C
GRCh38.p14 chr 2	NC_000002.12:g.233757013T>G
GRCh37.p13 chr 2	NC_000002.11:g.234665659T>A
GRCh37.p13 chr 2	NC_000002.11:g.234665659T>C
GRCh37.p13 chr 2	NC_000002.11:g.234665659T>G
UGT1A RefSeqGene	NG_002601.2:g.172270T>A
UGT1A RefSeqGene	NG_002601.2:g.172270T>C
UGT1A RefSeqGene	NG_002601.2:g.172270T>G
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.1741T>A
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.1741T>C
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.1741T>G

Gene: UGT1A6, UDP glucuronosyltransferase family 1 member A6 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A6 transcript variant 1	NM_001072.4:c.862-10021T>A	N/A	Intron Variant
UGT1A6 transcript variant 2	NM_205862.3:c.61-10021T>A	N/A	Intron Variant

Gene: UGT1A4, UDP glucuronosyltransferase family 1 member A4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A4 transcript	NM_007120.3:c.868-10021T>A	N/A	Intron Variant

Gene: UGT1A10, UDP glucuronosyltransferase family 1 member A10 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A10 transcript	NM_019075.4:c.856-10021T>A	N/A	Intron Variant

Gene: UGT1A8, UDP glucuronosyltransferase family 1 member A8 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A8 transcript	NM_019076.5:c.856-10021T>A	N/A	Intron Variant

Gene: UGT1A7, UDP glucuronosyltransferase family 1 member A7 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A7 transcript	NM_019077.3:c.856-10021T>A	N/A	Intron Variant

Gene: UGT1A5, UDP glucuronosyltransferase family 1 member A5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A5 transcript	NM_019078.2:c.868-10021T>A	N/A	Intron Variant

Gene: UGT1A3, UDP glucuronosyltransferase family 1 member A3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A3 transcript	NM_019093.4:c.868-10021T>A	N/A	Intron Variant

Gene: UGT1A9, UDP glucuronosyltransferase family 1 member A9 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A9 transcript	NM_021027.3:c.856-10021T>A	N/A	Intron Variant

Gene: LOC100286922, DnaJ heat shock protein family (Hsp40) member B3 pseudogene (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC100286922 transcript variant 1	NR_037694.1:n.	N/A	Upstream Transcript Variant
LOC100286922 transcript variant 2	NR_037695.1:n.	N/A	Upstream Transcript Variant
LOC100286922 transcript variant 3	NR_037696.1:n.	N/A	Upstream Transcript 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: G (allele ID: 27327 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000013082.12	Gilbert syndrome, susceptibility to	Risk-Factor
RCV000999557.11	Gilbert syndrome	Likely-Pathogenic
RCV001810854.24	not provided	Benign
RCV003883117.1	Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome, type II,Lucey-Driscoll syndrome	Uncertain-Significance
RCV003914830.1	UGT1A9-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	T=	A	C	G
GRCh38.p14 chr 2	NC_000002.12:g.233757013=	NC_000002.12:g.233757013T>A	NC_000002.12:g.233757013T>C	NC_000002.12:g.233757013T>G
GRCh37.p13 chr 2	NC_000002.11:g.234665659=	NC_000002.11:g.234665659T>A	NC_000002.11:g.234665659T>C	NC_000002.11:g.234665659T>G
UGT1A RefSeqGene	NG_002601.2:g.172270=	NG_002601.2:g.172270T>A	NG_002601.2:g.172270T>C	NG_002601.2:g.172270T>G
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.1741=	NG_033238.1:g.1741T>A	NG_033238.1:g.1741T>C	NG_033238.1:g.1741T>G
UGT1A6 transcript variant 1	NM_001072.3:c.862-10021=	NM_001072.3:c.862-10021T>A	NM_001072.3:c.862-10021T>C	NM_001072.3:c.862-10021T>G
UGT1A6 transcript variant 1	NM_001072.4:c.862-10021=	NM_001072.4:c.862-10021T>A	NM_001072.4:c.862-10021T>C	NM_001072.4:c.862-10021T>G
UGT1A4 transcript	NM_007120.2:c.868-10021=	NM_007120.2:c.868-10021T>A	NM_007120.2:c.868-10021T>C	NM_007120.2:c.868-10021T>G
UGT1A4 transcript	NM_007120.3:c.868-10021=	NM_007120.3:c.868-10021T>A	NM_007120.3:c.868-10021T>C	NM_007120.3:c.868-10021T>G
UGT1A10 transcript	NM_019075.2:c.856-10021=	NM_019075.2:c.856-10021T>A	NM_019075.2:c.856-10021T>C	NM_019075.2:c.856-10021T>G
UGT1A10 transcript	NM_019075.4:c.856-10021=	NM_019075.4:c.856-10021T>A	NM_019075.4:c.856-10021T>C	NM_019075.4:c.856-10021T>G
UGT1A8 transcript	NM_019076.4:c.856-10021=	NM_019076.4:c.856-10021T>A	NM_019076.4:c.856-10021T>C	NM_019076.4:c.856-10021T>G
UGT1A8 transcript	NM_019076.5:c.856-10021=	NM_019076.5:c.856-10021T>A	NM_019076.5:c.856-10021T>C	NM_019076.5:c.856-10021T>G
UGT1A7 transcript	NM_019077.2:c.856-10021=	NM_019077.2:c.856-10021T>A	NM_019077.2:c.856-10021T>C	NM_019077.2:c.856-10021T>G
UGT1A7 transcript	NM_019077.3:c.856-10021=	NM_019077.3:c.856-10021T>A	NM_019077.3:c.856-10021T>C	NM_019077.3:c.856-10021T>G
UGT1A5 transcript	NM_019078.1:c.868-10021=	NM_019078.1:c.868-10021T>A	NM_019078.1:c.868-10021T>C	NM_019078.1:c.868-10021T>G
UGT1A5 transcript	NM_019078.2:c.868-10021=	NM_019078.2:c.868-10021T>A	NM_019078.2:c.868-10021T>C	NM_019078.2:c.868-10021T>G
UGT1A3 transcript	NM_019093.2:c.868-10021=	NM_019093.2:c.868-10021T>A	NM_019093.2:c.868-10021T>C	NM_019093.2:c.868-10021T>G
UGT1A3 transcript	NM_019093.4:c.868-10021=	NM_019093.4:c.868-10021T>A	NM_019093.4:c.868-10021T>C	NM_019093.4:c.868-10021T>G
UGT1A9 transcript	NM_021027.2:c.856-10021=	NM_021027.2:c.856-10021T>A	NM_021027.2:c.856-10021T>C	NM_021027.2:c.856-10021T>G
UGT1A9 transcript	NM_021027.3:c.856-10021=	NM_021027.3:c.856-10021T>A	NM_021027.3:c.856-10021T>C	NM_021027.3:c.856-10021T>G
UGT1A6 transcript variant 2	NM_205862.1:c.61-10021=	NM_205862.1:c.61-10021T>A	NM_205862.1:c.61-10021T>C	NM_205862.1:c.61-10021T>G
UGT1A6 transcript variant 2	NM_205862.3:c.61-10021=	NM_205862.3:c.61-10021T>A	NM_205862.3:c.61-10021T>C	NM_205862.3:c.61-10021T>G

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#.

137 SubSNP, 21 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss5569601	Oct 10, 2002 (108)
2	SC_JCM	ss5868530	Feb 20, 2003 (111)
3	CSHL-HAPMAP	ss16845257	Feb 27, 2004 (120)
4	SSAHASNP	ss21752008	Apr 05, 2004 (121)
5	ABI	ss44196249	Mar 13, 2006 (126)
6	KRIBB_YJKIM	ss65832323	Dec 01, 2006 (127)
7	PHARMGKB_PAAR-UCHI	ss69367665	May 18, 2007 (127)
8	PHARMGKB_PAAR-UCHI	ss69369154	May 18, 2007 (127)
9	PHARMGKB_PAAR-UCHI	ss69369286	May 18, 2007 (127)
10	PHARMGKB_PAAR-UCHI	ss69369602	May 18, 2007 (127)
11	ILLUMINA	ss75246456	Dec 07, 2007 (129)
12	PHARMGKB_AB_DME	ss84169613	Dec 14, 2007 (130)
13	HGSV	ss85680960	Dec 14, 2007 (130)
14	BCMHGSC_JDW	ss91590039	Mar 24, 2008 (129)
15	HUMANGENOME_JCVI	ss97132033	Feb 04, 2009 (130)
16	SNP500CANCER	ss105439989	Feb 04, 2009 (130)
17	1000GENOMES	ss110965163	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss118123002	Feb 14, 2009 (130)
19	KRIBB_YJKIM	ss119470225	Dec 01, 2009 (131)
20	ENSEMBL	ss132931183	Dec 01, 2009 (131)
21	ENSEMBL	ss138651576	Dec 01, 2009 (131)
22	ILLUMINA	ss154282026	Dec 01, 2009 (131)
23	ILLUMINA	ss159458856	Dec 01, 2009 (131)
24	ILLUMINA	ss160660902	Dec 01, 2009 (131)
25	COMPLETE_GENOMICS	ss165964115	Jul 04, 2010 (132)
26	COMPLETE_GENOMICS	ss167604284	Jul 04, 2010 (132)
27	ILLUMINA	ss173687223	Jul 04, 2010 (132)
28	BUSHMAN	ss201895591	Jul 04, 2010 (132)
29	BCM-HGSC-SUB	ss205600695	Jul 04, 2010 (132)
30	1000GENOMES	ss219881086	Jul 14, 2010 (132)
31	1000GENOMES	ss231635560	Jul 14, 2010 (132)
32	1000GENOMES	ss239083125	Jul 15, 2010 (132)
33	ILLUMINA	ss244298741	Jul 04, 2010 (132)
34	GMI	ss276944156	May 04, 2012 (137)
35	PJP	ss292510942	May 09, 2011 (134)
36	ILLUMINA	ss480891058	May 04, 2012 (137)
37	ILLUMINA	ss480909857	May 04, 2012 (137)
38	ILLUMINA	ss481858285	Sep 08, 2015 (146)
39	ILLUMINA	ss485240577	May 04, 2012 (137)
40	ILLUMINA	ss537214995	Sep 08, 2015 (146)
41	TISHKOFF	ss556305425	Apr 25, 2013 (138)
42	SSMP	ss649966216	Apr 25, 2013 (138)
43	ILLUMINA	ss779042291	Sep 08, 2015 (146)
44	ILLUMINA	ss783066216	Sep 08, 2015 (146)
45	ILLUMINA	ss784024149	Sep 08, 2015 (146)
46	ILLUMINA	ss832324264	Sep 08, 2015 (146)
47	ILLUMINA	ss832970366	Jul 13, 2019 (153)
48	ILLUMINA	ss834505147	Sep 08, 2015 (146)
49	EVA-GONL	ss978088559	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1070036220	Aug 21, 2014 (142)
51	1000GENOMES	ss1302134424	Aug 21, 2014 (142)
52	DDI	ss1428950082	Apr 01, 2015 (144)
53	OMIM-CURATED-RECORDS	ss1505810909	Dec 08, 2014 (142)
54	EVA_DECODE	ss1587548660	Apr 01, 2015 (144)
55	EVA_UK10K_ALSPAC	ss1606057615	Apr 01, 2015 (144)
56	EVA_UK10K_TWINSUK	ss1649051648	Apr 01, 2015 (144)
57	EVA_SVP	ss1712539926	Apr 01, 2015 (144)
58	ILLUMINA	ss1752345212	Sep 08, 2015 (146)
59	HAMMER_LAB	ss1798566746	Sep 08, 2015 (146)
60	WEILL_CORNELL_DGM	ss1921336138	Feb 12, 2016 (147)
61	ILLUMINA	ss1958518570	Feb 12, 2016 (147)
62	GENOMED	ss1969055565	Jul 19, 2016 (147)
63	JJLAB	ss2021216383	Sep 14, 2016 (149)
64	USC_VALOUEV	ss2149282492	Dec 20, 2016 (150)
65	SYSTEMSBIOZJU	ss2625108455	Nov 08, 2017 (151)
66	ILLUMINA	ss2633755405	Nov 08, 2017 (151)
67	GRF	ss2703935194	Nov 08, 2017 (151)
68	ILLUMINA	ss2710928941	Nov 08, 2017 (151)
69	GNOMAD	ss2787711773	Nov 08, 2017 (151)
70	AFFY	ss2985203945	Nov 08, 2017 (151)
71	AFFY	ss2985825259	Nov 08, 2017 (151)
72	SWEGEN	ss2991558382	Nov 08, 2017 (151)
73	ILLUMINA	ss3022083111	Nov 08, 2017 (151)
74	BIOINF_KMB_FNS_UNIBA	ss3024368343	Nov 08, 2017 (151)
75	CSHL	ss3344798513	Nov 08, 2017 (151)
76	ILLUMINA	ss3628314189	Oct 11, 2018 (152)
77	ILLUMINA	ss3631714582	Oct 11, 2018 (152)
78	ILLUMINA	ss3633238537	Oct 11, 2018 (152)
79	ILLUMINA	ss3633951930	Oct 11, 2018 (152)
80	ILLUMINA	ss3634818209	Oct 11, 2018 (152)
81	ILLUMINA	ss3635637283	Oct 11, 2018 (152)
82	ILLUMINA	ss3636508279	Oct 11, 2018 (152)
83	ILLUMINA	ss3637389318	Oct 11, 2018 (152)
84	ILLUMINA	ss3638325638	Oct 11, 2018 (152)
85	ILLUMINA	ss3640525508	Oct 11, 2018 (152)
86	ILLUMINA	ss3643289831	Oct 11, 2018 (152)
87	URBANLAB	ss3647302816	Oct 11, 2018 (152)
88	ILLUMINA	ss3652535915	Oct 11, 2018 (152)
89	ILLUMINA	ss3653971964	Oct 11, 2018 (152)
90	EVA_DECODE	ss3706266191	Jul 13, 2019 (153)
91	ILLUMINA	ss3725884816	Jul 13, 2019 (153)
92	ACPOP	ss3729480991	Jul 13, 2019 (153)
93	ILLUMINA	ss3745118098	Jul 13, 2019 (153)
94	EVA	ss3758234663	Jul 13, 2019 (153)
95	ILLUMINA	ss3772614473	Jul 13, 2019 (153)
96	KHV_HUMAN_GENOMES	ss3802597159	Jul 13, 2019 (153)
97	EVA	ss3827569825	Apr 25, 2020 (154)
98	EVA	ss3837205314	Apr 25, 2020 (154)
99	EVA	ss3842627989	Apr 25, 2020 (154)
100	SGDP_PRJ	ss3854854020	Apr 25, 2020 (154)
101	KRGDB	ss3900603142	Apr 25, 2020 (154)
102	KOGIC	ss3950335446	Apr 25, 2020 (154)
103	EVA	ss3984499938	Apr 26, 2021 (155)
104	EVA	ss3984961491	Apr 26, 2021 (155)
105	TOPMED	ss4548832635	Apr 26, 2021 (155)
106	TOMMO_GENOMICS	ss6019040855	Oct 30, 2024 (157)
107	EVA	ss6289038274	Oct 30, 2024 (157)
108	EVA	ss6322167462	Oct 30, 2024 (157)
109	EVA	ss6323673380	Oct 30, 2024 (157)
110	EVA	ss6329932030	Oct 30, 2024 (157)
111	YEGNASUBRAMANIAN_LAB	ss6336182579	Oct 30, 2024 (157)
112	EVA	ss6349546485	Oct 30, 2024 (157)
113	EVA	ss6349997697	Oct 30, 2024 (157)
114	KOGIC	ss6358689809	Oct 30, 2024 (157)
115	GNOMAD	ss6574548996	Oct 30, 2024 (157)
116	TOMMO_GENOMICS	ss8157055970	Oct 30, 2024 (157)
117	1000G_HIGH_COVERAGE	ss8252462973	Oct 30, 2024 (157)
118	EVA	ss8314817560	Oct 30, 2024 (157)
119	EVA	ss8336823267	Oct 30, 2024 (157)
120	HUGCELL_USP	ss8452030905	Oct 30, 2024 (157)
121	EVA	ss8506837135	Oct 30, 2024 (157)
122	1000G_HIGH_COVERAGE	ss8530019179	Oct 30, 2024 (157)
123	SANFORD_IMAGENETICS	ss8624475461	Oct 30, 2024 (157)
124	SANFORD_IMAGENETICS	ss8631198193	Oct 30, 2024 (157)
125	TOMMO_GENOMICS	ss8688107698	Oct 30, 2024 (157)
126	EVA	ss8799563824	Oct 30, 2024 (157)
127	YY_MCH	ss8803328064	Oct 30, 2024 (157)
128	EVA	ss8821760150	Oct 30, 2024 (157)
129	EVA	ss8847207750	Oct 30, 2024 (157)
130	EVA	ss8847907894	Oct 30, 2024 (157)
131	EVA	ss8853001632	Oct 30, 2024 (157)
132	EVA	ss8935201121	Oct 30, 2024 (157)
133	EVA	ss8957463840	Oct 30, 2024 (157)
134	EVA	ss8979604192	Oct 30, 2024 (157)
135	EVA	ss8981875228	Oct 30, 2024 (157)
136	EVA	ss8981875229	Oct 30, 2024 (157)
137	EVA	ss8982417348	Oct 30, 2024 (157)
138	1000Genomes	NC_000002.11 - 234665659	Oct 11, 2018 (152)
139	1000Genomes_30X	NC_000002.12 - 233757013	Oct 30, 2024 (157)
140	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 234665659	Oct 11, 2018 (152)
141	gnomAD v4 - Genomes	NC_000002.12 - 233757013	Oct 30, 2024 (157)
142	Genome of the Netherlands Release 5	NC_000002.11 - 234665659	Apr 25, 2020 (154)
143	HapMap	NC_000002.12 - 233757013	Apr 25, 2020 (154)
144	KOREAN population from KRGDB	NC_000002.11 - 234665659	Apr 25, 2020 (154)
145	Korean Genome Project	NC_000002.12 - 233757013	Apr 25, 2020 (154)
146	Korean Genome Project 4K	NC_000002.12 - 233757013	Oct 30, 2024 (157)
147	Northern Sweden	NC_000002.11 - 234665659	Jul 13, 2019 (153)
148	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000002.11 - 234665659	Apr 26, 2021 (155)
149	CNV burdens in cranial meningiomas	NC_000002.11 - 234665659	Apr 26, 2021 (155)
150	PharmGKB Aggregated	NC_000002.12 - 233757013	Apr 25, 2020 (154)
151	Qatari	NC_000002.11 - 234665659	Apr 25, 2020 (154)
152	SGDP_PRJ	NC_000002.11 - 234665659	Apr 25, 2020 (154)
153	Siberian	NC_000002.11 - 234665659	Apr 25, 2020 (154)
154	38KJPN	NC_000002.12 - 233757013	Oct 30, 2024 (157)
155	TopMed	NC_000002.12 - 233757013	Apr 26, 2021 (155)
156	UK 10K study - Twins	NC_000002.11 - 234665659	Oct 11, 2018 (152)
157	A Vietnamese Genetic Variation Database	NC_000002.11 - 234665659	Jul 13, 2019 (153)
158	ALFA	NC_000002.12 - 233757013	Oct 30, 2024 (157)
159	ClinVar	RCV000013082.12	Oct 30, 2024 (157)
160	ClinVar	RCV000999557.11	Oct 30, 2024 (157)
161	ClinVar	RCV001810854.24	Oct 30, 2024 (157)
162	ClinVar	RCV003883117.1	Oct 30, 2024 (157)
163	ClinVar	RCV003914830.1	Oct 30, 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)
rs57409706	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss6349546485	NC_000002.11:234665658:T:A	NC_000002.12:233757012:T:A
948582167	NC_000002.12:233757012:T:A	NC_000002.12:233757012:T:A	(self)
7780536, ss3900603142, ss6349546485	NC_000002.11:234665658:T:C	NC_000002.12:233757012:T:C	(self)
ss85680960	NC_000002.9:234447658:T:G	NC_000002.12:233757012:T:G	(self)
ss91590039, ss110965163, ss118123002, ss165964115, ss167604284, ss201895591, ss205600695, ss276944156, ss292510942, ss480891058, ss1587548660, ss1712539926, ss3643289831	NC_000002.10:234330397:T:G	NC_000002.12:233757012:T:G	(self)
13257563, 7342884, 3217052, 7780536, 2765856, 187418, 49278, 3378068, 6871000, 1798846, 7342884, 1594062, ss219881086, ss231635560, ss239083125, ss480909857, ss481858285, ss485240577, ss537214995, ss556305425, ss649966216, ss779042291, ss783066216, ss784024149, ss832324264, ss832970366, ss834505147, ss978088559, ss1070036220, ss1302134424, ss1428950082, ss1606057615, ss1649051648, ss1752345212, ss1798566746, ss1921336138, ss1958518570, ss1969055565, ss2021216383, ss2149282492, ss2625108455, ss2633755405, ss2703935194, ss2710928941, ss2787711773, ss2985203945, ss2985825259, ss2991558382, ss3022083111, ss3344798513, ss3628314189, ss3631714582, ss3633238537, ss3633951930, ss3634818209, ss3635637283, ss3636508279, ss3637389318, ss3638325638, ss3640525508, ss3652535915, ss3653971964, ss3729480991, ss3745118098, ss3758234663, ss3772614473, ss3827569825, ss3837205314, ss3854854020, ss3900603142, ss3984499938, ss3984961491, ss6289038274, ss6322167462, ss6323673380, ss6329932030, ss6336182579, ss8157055970, ss8314817560, ss8336823267, ss8506837135, ss8624475461, ss8631198193, ss8799563824, ss8821760150, ss8847207750, ss8847907894, ss8957463840, ss8979604192, ss8981875228, ss8981875229, ss8982417348	NC_000002.11:234665658:T:G	NC_000002.12:233757012:T:G	(self)
RCV000013082.12, RCV000999557.11, RCV001810854.24, RCV003883117.1, RCV003914830.1, 17545114, 101028017, 2035224, 6713447, 8541707, 6965, 36416675, 352655514, 948582167, ss1505810909, ss3024368343, ss3647302816, ss3706266191, ss3725884816, ss3802597159, ss3842627989, ss3950335446, ss4548832635, ss6019040855, ss6349997697, ss6358689809, ss6574548996, ss8252462973, ss8452030905, ss8530019179, ss8688107698, ss8803328064, ss8853001632, ss8935201121	NC_000002.12:233757012:T:G	NC_000002.12:233757012:T:G	(self)
ss16845257, ss21752008	NT_005120.14:596192:T:G	NC_000002.12:233757012:T:G	(self)
ss5569601, ss5868530, ss44196249, ss65832323, ss69367665, ss69369154, ss69369286, ss69369602, ss75246456, ss84169613, ss97132033, ss105439989, ss119470225, ss132931183, ss138651576, ss154282026, ss159458856, ss160660902, ss173687223, ss244298741	NT_005120.16:611917:T:G	NC_000002.12:233757012:T:G	(self)

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

40 citations for rs4124874

PMID	Title	Author	Year	Journal
11906189	Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.	Sugatani J et al.	2002	Biochemical and biophysical research communications
15378351	Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome.	Maruo Y et al.	2004	Human genetics
17424838	[Genetic polymorphisms of MPO, NQO1, GSTP1, UGT1A6 associated with susceptibility of chronic benzene poisoning].	Sun P et al.	2007	Wei sheng yan jiu = Journal of hygiene research
17498780	The influence of metabolic gene polymorphisms on urinary 1-hydroxypyrene concentrations in Chinese coke oven workers.	Chen B et al.	2007	The Science of the total environment
18992148	Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.	Küry S et al.	2008	BMC cancer
19267064	[Relationship between genetic polymorphisms of phase I and phase II metabolizing enzymes and DNA damage of workers exposed to vinyl chloride monomer].	Ji F et al.	2009	Wei sheng yan jiu = Journal of hygiene research
19482841	Serum bilirubin levels on ICU admission are associated with ARDS development and mortality in sepsis.	Zhai R et al.	2009	Thorax
20177420	Prediction of irinotecan and 5-fluorouracil toxicity and response in patients with advanced colorectal cancer.	Glimelius B et al.	2011	The pharmacogenomics journal
20389299	Pazopanib-induced hyperbilirubinemia is associated with Gilbert's syndrome UGT1A1 polymorphism.	Xu CF et al.	2010	British journal of cancer
20921971	Mapping genes that predict treatment outcome in admixed populations.	Baye TM et al.	2010	The pharmacogenomics journal
21513526	UGT1A1 sequence variants and bilirubin levels in early postnatal life: a quantitative approach.	Hanchard NA et al.	2011	BMC medical genetics
24339312	Comprehensive variant screening of the UGT gene family.	Kim JY et al.	2014	Yonsei medical journal
24587300	Serum bilirubin concentration in healthy adult North-Europeans is strictly controlled by the UGT1A1 TA-repeat variants.	Kringen MK et al.	2014	PloS one
24865931	Combined effects of the UGT1A1 and OATP2 gene polymorphisms as major risk factor for unconjugated hyperbilirubinemia in Indian neonates.	D'Silva S et al.	2014	Gene
24944790	Screening for 392 polymorphisms in 141 pharmacogenes.	Kim JY et al.	2014	Biomedical reports
25175642	A novel system for predicting the toxicity of irinotecan based on statistical pattern recognition with UGT1A genotypes.	Tsunedomi R et al.	2014	International journal of oncology
25266489	Genetic polymorphisms of VIP variants in the Tajik ethnic group of northwest China.	Zhang J et al.	2014	BMC genetics
25419701	Exploring the distribution of genetic markers of pharmacogenomics relevance in Brazilian and Mexican populations.	Bonifaz-Peña V et al.	2014	PloS one
26091847	Genetic polymorphisms of pharmacogenomic VIP variants in the Uygur population from northwestern China.	Wang L et al.	2015	BMC genetics
26223945	Influence of UDP-Glucuronosyltransferase Polymorphisms on Stable Warfarin Doses in Patients with Mechanical Cardiac Valves.	An SH et al.	2015	Cardiovascular therapeutics
26417955	Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing.	Gammal RS et al.	2016	Clinical pharmacology and therapeutics
26628212	Serum bilirubin concentration is modified by UGT1A1 haplotypes and influences risk of type-2 diabetes in the Norfolk Island genetic isolate.	Benton MC et al.	2015	BMC genetics
26785747	Polymorphisms in genes involved in the absorption, distribution, metabolism, and excretion of drugs in the Kazakhs of Kazakhstan.	Iskakova AN et al.	2016	BMC genetics
26858644	Cross-Comparison of Exome Analysis, Next-Generation Sequencing of Amplicons, and the iPLEX(®) ADME PGx Panel for Pharmacogenomic Profiling.	Chua EW et al.	2016	Frontiers in pharmacology
27110117	Clinically relevant genetic variants of drug-metabolizing enzyme and transporter genes detected in Thai children and adolescents with autism spectrum disorder.	Medhasi S et al.	2016	Neuropsychiatric disease and treatment
27233804	Genetic polymorphisms of pharmacogenomic VIP variants in the Mongol of Northwestern China.	Jin T et al.	2016	BMC genetics
28817838	Pharmacogenetic determinants of outcomes on triplet hepatic artery infusion and intravenous cetuximab for liver metastases from colorectal cancer (European trial OPTILIV, NCT00852228).	Lévi F et al.	2017	British journal of cancer
29085579	UGT1A1 gene linkage analysis: application of polymorphic markers rs4148326/rs4124874 in the Iranian population.	Nadeali Z et al.	2017	Iranian journal of basic medical sciences
29193749	Clinical Implementation of Pharmacogenetic Testing in a Hospital of the Spanish National Health System: Strategy and Experience Over 3 Years.	Borobia AM et al.	2018	Clinical and translational science
29681089	Genetic variation in biotransformation enzymes, air pollution exposures, and risk of spina bifida.	Padula AM et al.	2018	American journal of medical genetics. Part A
29728798	UGT1A polymorphisms associated with worse outcome in colorectal cancer patients treated with irinotecan-based chemotherapy.	Yu Q et al.	2018	Cancer chemotherapy and pharmacology
30093869	Biological Predictors of Clozapine Response: A Systematic Review.	Samanaite R et al.	2018	Frontiers in psychiatry
30452466	Characterization of ADME genes variation in Roma and 20 populations worldwide.	Škarić-Jurić T et al.	2018	PloS one
30621171	Genome-Wide Association Study (GWAS) on Bilirubin Concentrations in Subjects with Metabolic Syndrome: Sex-Specific GWAS Analysis and Gene-Diet Interactions in a Mediterranean Population.	Coltell O et al.	2019	Nutrients
31254178	Effects of UGT1A1 Polymorphism, Gender and Triglyceride on the Pharmacokinetics of Telmisartan in Chinese Patients with Hypertension: A Population Pharmacokinetic Analysis.	Huang L et al.	2019	European journal of drug metabolism and pharmacokinetics
33158427	The role of UGT1A1 (c.-3279 T > G) gene polymorphisms in neonatal hyperbilirubinemia susceptibility.	Li Z et al.	2020	BMC medical genetics
33519226	Genetic Diversity of Drug-Related Genes in Native Americans of the Brazilian Amazon.	Fernandes MR et al.	2021	Pharmacogenomics and personalized medicine
33569925	Gene-environment interactions between air pollution and biotransformation enzymes and risk of birth defects.	Padula AM et al.	2021	Birth defects research
33805706	SLCO1B1 Phenotype and CYP3A5 Polymorphism Significantly Affect Atorvastatin Bioavailability.	Zubiaur P et al.	2021	Journal of personalized medicine
34621706	Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.	Kim B et al.	2021	Translational and clinical pharmacology

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

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4124874