Name: rs35350960
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.

rs35350960

Current Build 157

Released September 3, 2024

Organism: Homo sapiens
Position: chr2:233760973 (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: C>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.000911 (176/193134, ALFA)
A=0.01062 (836/78702, PAGE_STUDY)
A=0.00488 (378/77442, 38KJPN) (+ 12 more)
A=0.0131 (95/7234, Korea4K)
A=0.0025 (16/6404, 1000G_30X)
A=0.0028 (14/5008, 1000G)
A=0.0006 (2/3298, PRJNA289433)
A=0.0130 (38/2922, KOREAN)
A=0.0136 (25/1832, Korea1K)
A=0.0126 (14/1114, PharmGKB)
A=0.011 (9/790, PRJEB37584)
A=0.015 (9/610, Vietnamese)
A=0.002 (1/534, MGP)
C=0.5 (2/4, SGDP_PRJ)
A=0.5 (2/4, SGDP_PRJ)

Clinical Significance: Reported in ClinVar
Gene : Consequence: UGT1A1 : Missense Variant
UGT1A10 : Intron Variant
UGT1A3 : Intron Variant (+ 6 more)
UGT1A4 : Intron Variant
UGT1A5 : Intron Variant
UGT1A6 : Intron Variant
UGT1A7 : Intron Variant
UGT1A8 : Intron Variant
UGT1A9 : Intron Variant
Publications: 15 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	193134	C=0.999084	A=0.000911, T=0.000005	0.998229	5.2e-05	0.001719	32
European	Sub	162938	C=0.999932	A=0.000061, T=0.000006	0.999877	0.0	0.000123	0
African	Sub	10434	C=1.00000	A=0.00000, T=0.00000	1.0	0.0	0.0	N/A
African Others	Sub	402	C=1.000	A=0.000, T=0.000	1.0	0.0	0.0	N/A
African American	Sub	10032	C=1.00000	A=0.00000, T=0.00000	1.0	0.0	0.0	N/A
Asian	Sub	6298	C=0.9827	A=0.0173, T=0.0000	0.966339	0.000953	0.032709	3
East Asian	Sub	4480	C=0.9846	A=0.0154, T=0.0000	0.969643	0.000446	0.029911	0
Other Asian	Sub	1818	C=0.9780	A=0.0220, T=0.0000	0.958196	0.0022	0.039604	4
Latin American 1	Sub	524	C=1.000	A=0.000, T=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	1496	C=0.9993	A=0.0007, T=0.0000	0.998663	0.0	0.001337	0
South Asian	Sub	302	C=1.000	A=0.000, T=0.000	1.0	0.0	0.0	N/A
Other	Sub	11142	C=0.99497	A=0.00503, T=0.00000	0.990307	0.000359	0.009334	14

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
Allele Frequency Aggregator	Total	Global	193134	C=0.999084	A=0.000911, T=0.000005
Allele Frequency Aggregator	European	Sub	162938	C=0.999932	A=0.000061, T=0.000006
Allele Frequency Aggregator	Other	Sub	11142	C=0.99497	A=0.00503, T=0.00000
Allele Frequency Aggregator	African	Sub	10434	C=1.00000	A=0.00000, T=0.00000
Allele Frequency Aggregator	Asian	Sub	6298	C=0.9827	A=0.0173, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	1496	C=0.9993	A=0.0007, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	524	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	302	C=1.000	A=0.000, T=0.000
The PAGE Study	Global	Study-wide	78702	C=0.98938	A=0.01062
The PAGE Study	AfricanAmerican	Sub	32516	C=0.99997	A=0.00003
The PAGE Study	Mexican	Sub	10810	C=0.99981	A=0.00019
The PAGE Study	Asian	Sub	8318	C=0.9911	A=0.0089
The PAGE Study	PuertoRican	Sub	7918	C=1.0000	A=0.0000
The PAGE Study	NativeHawaiian	Sub	4534	C=0.8330	A=0.1670
The PAGE Study	Cuban	Sub	4230	C=0.9995	A=0.0005
The PAGE Study	Dominican	Sub	3828	C=1.0000	A=0.0000
The PAGE Study	CentralAmerican	Sub	2450	C=1.0000	A=0.0000
The PAGE Study	SouthAmerican	Sub	1982	C=1.0000	A=0.0000
The PAGE Study	NativeAmerican	Sub	1260	C=1.0000	A=0.0000
The PAGE Study	SouthAsian	Sub	856	C=1.000	A=0.000
38KJPN	JAPANESE	Study-wide	77442	C=0.99512	A=0.00488
Korean Genome Project 4K	KOREAN	Study-wide	7234	C=0.9869	A=0.0131
1000Genomes_30X	Global	Study-wide	6404	C=0.9975	A=0.0025
1000Genomes_30X	African	Sub	1786	C=1.0000	A=0.0000
1000Genomes_30X	Europe	Sub	1266	C=1.0000	A=0.0000
1000Genomes_30X	South Asian	Sub	1202	C=1.0000	A=0.0000
1000Genomes_30X	East Asian	Sub	1170	C=0.9863	A=0.0137
1000Genomes_30X	American	Sub	980	C=1.000	A=0.000
1000Genomes	Global	Study-wide	5008	C=0.9972	A=0.0028
1000Genomes	African	Sub	1322	C=1.0000	A=0.0000
1000Genomes	East Asian	Sub	1008	C=0.9861	A=0.0139
1000Genomes	Europe	Sub	1006	C=1.0000	A=0.0000
1000Genomes	South Asian	Sub	978	C=1.000	A=0.000
1000Genomes	American	Sub	694	C=1.000	A=0.000
MxGDAR/Encodat-PGx	Global	Study-wide	3298	C=0.9994	A=0.0006
MxGDAR/Encodat-PGx	MxGDAR	Sub	3298	C=0.9994	A=0.0006
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9870	A=0.0130
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9864	A=0.0136
PharmGKB Aggregated	Global	Study-wide	1114	C=0.9874	A=0.0126
PharmGKB Aggregated	PA142178460	Sub	588	C=0.983	A=0.017
PharmGKB Aggregated	PA147457098	Sub	356	C=0.992	A=0.008
PharmGKB Aggregated	PA129671141	Sub	170	C=0.994	A=0.006
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.989	A=0.011
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.989	A=0.011
A Vietnamese Genetic Variation Database	Global	Study-wide	610	C=0.985	A=0.015
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.998	A=0.002
SGDP_PRJ	Global	Study-wide	4	C=0.5	A=0.5

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.233760973C>A
GRCh38.p14 chr 2	NC_000002.12:g.233760973C>T
GRCh37.p13 chr 2	NC_000002.11:g.234669619C>A
GRCh37.p13 chr 2	NC_000002.11:g.234669619C>T
UGT1A RefSeqGene	NG_002601.2:g.176230C>A
UGT1A RefSeqGene	NG_002601.2:g.176230C>T
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.5701C>A
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.5701C>T

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.862-6061C>A	N/A	Intron Variant
UGT1A6 transcript variant 2	NM_205862.3:c.61-6061C>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.868-6061C>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.856-6061C>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.856-6061C>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.856-6061C>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.868-6061C>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.868-6061C>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.856-6061C>A	N/A	Intron Variant

Gene: UGT1A1, UDP glucuronosyltransferase family 1 member A1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGT1A1 transcript	NM_000463.3:c.686C>A	P [CCG] > Q [CAG]	Coding Sequence Variant
UDP-glucuronosyltransferase 1A1 precursor	NP_000454.1:p.Pro229Gln	P (Pro) > Q (Gln)	Missense Variant
UGT1A1 transcript	NM_000463.3:c.686C>T	P [CCG] > L [CTG]	Coding Sequence Variant
UDP-glucuronosyltransferase 1A1 precursor	NP_000454.1:p.Pro229Leu	P (Pro) > L (Leu)	Missense 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: A (allele ID: 27313 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000013062.35	Gilbert syndrome	Pathogenic,Affects
RCV000013063.33	Crigler-Najjar syndrome, type II	Pathogenic
RCV000147905.21	not specified	Conflicting-Interpretations-Of-Pathogenicity
RCV000299521.32	not provided	Conflicting-Interpretations-Of-Pathogenicity,Other
RCV004532328.1	UGT1A1-related disorder	Uncertain-Significance

Allele: T (allele ID: 1497056 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001913560.9	not provided	Conflicting-Interpretations-Of-Pathogenicity
RCV002503572.1	Bilirubin, serum level of, quantitative trait locus 1,Crigler-Najjar syndrome type 1,Crigler-Najjar syndrome, type II,Gilbert syndrome,Lucey-Driscoll syndrome	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	C=	A	T
GRCh38.p14 chr 2	NC_000002.12:g.233760973=	NC_000002.12:g.233760973C>A	NC_000002.12:g.233760973C>T
GRCh37.p13 chr 2	NC_000002.11:g.234669619=	NC_000002.11:g.234669619C>A	NC_000002.11:g.234669619C>T
UGT1A RefSeqGene	NG_002601.2:g.176230=	NG_002601.2:g.176230C>A	NG_002601.2:g.176230C>T
UGT1A1 transcript	NM_000463.2:c.686=	NM_000463.2:c.686C>A	NM_000463.2:c.686C>T
UGT1A1 transcript	NM_000463.3:c.686=	NM_000463.3:c.686C>A	NM_000463.3:c.686C>T
UGT1A1 RefSeqGene (LRG_733)	NG_033238.1:g.5701=	NG_033238.1:g.5701C>A	NG_033238.1:g.5701C>T
UDP-glucuronosyltransferase 1A1 precursor	NP_000454.1:p.Pro229=	NP_000454.1:p.Pro229Gln	NP_000454.1:p.Pro229Leu
UGT1A6 transcript variant 1	NM_001072.3:c.862-6061=	NM_001072.3:c.862-6061C>A	NM_001072.3:c.862-6061C>T
UGT1A6 transcript variant 1	NM_001072.4:c.862-6061=	NM_001072.4:c.862-6061C>A	NM_001072.4:c.862-6061C>T
UGT1A4 transcript	NM_007120.2:c.868-6061=	NM_007120.2:c.868-6061C>A	NM_007120.2:c.868-6061C>T
UGT1A4 transcript	NM_007120.3:c.868-6061=	NM_007120.3:c.868-6061C>A	NM_007120.3:c.868-6061C>T
UGT1A10 transcript	NM_019075.2:c.856-6061=	NM_019075.2:c.856-6061C>A	NM_019075.2:c.856-6061C>T
UGT1A10 transcript	NM_019075.4:c.856-6061=	NM_019075.4:c.856-6061C>A	NM_019075.4:c.856-6061C>T
UGT1A8 transcript	NM_019076.4:c.856-6061=	NM_019076.4:c.856-6061C>A	NM_019076.4:c.856-6061C>T
UGT1A8 transcript	NM_019076.5:c.856-6061=	NM_019076.5:c.856-6061C>A	NM_019076.5:c.856-6061C>T
UGT1A7 transcript	NM_019077.2:c.856-6061=	NM_019077.2:c.856-6061C>A	NM_019077.2:c.856-6061C>T
UGT1A7 transcript	NM_019077.3:c.856-6061=	NM_019077.3:c.856-6061C>A	NM_019077.3:c.856-6061C>T
UGT1A5 transcript	NM_019078.1:c.868-6061=	NM_019078.1:c.868-6061C>A	NM_019078.1:c.868-6061C>T
UGT1A5 transcript	NM_019078.2:c.868-6061=	NM_019078.2:c.868-6061C>A	NM_019078.2:c.868-6061C>T
UGT1A3 transcript	NM_019093.2:c.868-6061=	NM_019093.2:c.868-6061C>A	NM_019093.2:c.868-6061C>T
UGT1A3 transcript	NM_019093.4:c.868-6061=	NM_019093.4:c.868-6061C>A	NM_019093.4:c.868-6061C>T
UGT1A9 transcript	NM_021027.2:c.856-6061=	NM_021027.2:c.856-6061C>A	NM_021027.2:c.856-6061C>T
UGT1A9 transcript	NM_021027.3:c.856-6061=	NM_021027.3:c.856-6061C>A	NM_021027.3:c.856-6061C>T
UGT1A6 transcript variant 2	NM_205862.1:c.61-6061=	NM_205862.1:c.61-6061C>A	NM_205862.1:c.61-6061C>T
UGT1A6 transcript variant 2	NM_205862.3:c.61-6061=	NM_205862.3:c.61-6061C>A	NM_205862.3:c.61-6061C>T

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#.

90 SubSNP, 22 Frequency, 7 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	PHARMGKB_PAAR-UCHI	ss69367664	May 18, 2007 (127)
2	PHARMGKB_PAAR-UCHI	ss69369600	May 18, 2007 (127)
3	ILLUMINA	ss75924906	Dec 06, 2007 (129)
4	PHARMGKB_AB_DME	ss84169602	Dec 15, 2007 (129)
5	SNP500CANCER	ss105440332	Feb 05, 2009 (130)
6	ILLUMINA	ss152536529	Dec 01, 2009 (131)
7	ILLUMINA	ss159102656	Dec 01, 2009 (131)
8	ILLUMINA	ss169483346	Jul 04, 2010 (132)
9	ILLUMINA	ss173599658	Jul 04, 2010 (132)
10	OMICIA	ss244317395	Jun 16, 2010 (132)
11	NHLBI-ESP	ss342105647	May 09, 2011 (134)
12	1000GENOMES	ss455907387	Sep 17, 2011 (135)
13	1000GENOMES	ss489858463	May 04, 2012 (137)
14	EXOME_CHIP	ss491333417	May 04, 2012 (137)
15	ILLUMINA	ss537178767	Sep 08, 2015 (146)
16	OMIM-CURATED-RECORDS	ss537712802	Feb 20, 2013 (137)
17	SSMP	ss649966241	Apr 25, 2013 (138)
18	ILLUMINA	ss780802956	Sep 08, 2015 (146)
19	ILLUMINA	ss783484441	Sep 08, 2015 (146)
20	ILLUMINA	ss832615452	Jul 13, 2019 (153)
21	1000GENOMES	ss1302134526	Aug 21, 2014 (142)
22	EVA_EXAC	ss1686799536	Apr 01, 2015 (144)
23	EVA_EXAC	ss1686799537	Apr 01, 2015 (144)
24	EVA_MGP	ss1711001340	Apr 01, 2015 (144)
25	EVA_SVP	ss1712539937	Apr 01, 2015 (144)
26	ILLUMINA	ss1752345228	Sep 08, 2015 (146)
27	ILLUMINA	ss1917761551	Feb 12, 2016 (147)
28	ILLUMINA	ss1946070040	Feb 12, 2016 (147)
29	ILLUMINA	ss1958518590	Feb 12, 2016 (147)
30	AMU	ss1966654958	Feb 12, 2016 (147)
31	HUMAN_LONGEVITY	ss2240160707	Dec 20, 2016 (150)
32	ILLUMINA	ss2633755419	Nov 08, 2017 (151)
33	GRF	ss2703935221	Nov 08, 2017 (151)
34	GNOMAD	ss2733431929	Nov 08, 2017 (151)
35	GNOMAD	ss2746910173	Nov 08, 2017 (151)
36	GNOMAD	ss2787712093	Nov 08, 2017 (151)
37	AFFY	ss2985203956	Nov 08, 2017 (151)
38	AFFY	ss2985825279	Nov 08, 2017 (151)
39	ILLUMINA	ss3022083134	Nov 08, 2017 (151)
40	ILLUMINA	ss3628314210	Oct 11, 2018 (152)
41	ILLUMINA	ss3628314211	Oct 11, 2018 (152)
42	ILLUMINA	ss3634818224	Oct 11, 2018 (152)
43	ILLUMINA	ss3638325649	Oct 11, 2018 (152)
44	ILLUMINA	ss3638325650	Oct 11, 2018 (152)
45	ILLUMINA	ss3640525523	Oct 11, 2018 (152)
46	ILLUMINA	ss3643289842	Oct 11, 2018 (152)
47	ILLUMINA	ss3644772744	Oct 11, 2018 (152)
48	ILLUMINA	ss3652535941	Oct 11, 2018 (152)
49	ILLUMINA	ss3653971975	Oct 11, 2018 (152)
50	EVA_DECODE	ss3706266243	Jul 13, 2019 (153)
51	ILLUMINA	ss3725884838	Jul 13, 2019 (153)
52	ILLUMINA	ss3744488893	Jul 13, 2019 (153)
53	ILLUMINA	ss3745118113	Jul 13, 2019 (153)
54	EVA	ss3758234706	Jul 13, 2019 (153)
55	PAGE_CC	ss3770996309	Jul 13, 2019 (153)
56	ILLUMINA	ss3772614488	Jul 13, 2019 (153)
57	KHV_HUMAN_GENOMES	ss3802597188	Jul 13, 2019 (153)
58	EVA	ss3823868938	Apr 25, 2020 (154)
59	SGDP_PRJ	ss3854854091	Apr 25, 2020 (154)
60	KRGDB	ss3900603221	Apr 25, 2020 (154)
61	KOGIC	ss3950335510	Apr 25, 2020 (154)
62	EVA	ss3984448051	Apr 26, 2021 (155)
63	EVA	ss3984499946	Apr 26, 2021 (155)
64	TOPMED	ss4548833548	Apr 26, 2021 (155)
65	TOPMED	ss4548833549	Apr 26, 2021 (155)
66	TOMMO_GENOMICS	ss6019041178	Oct 30, 2024 (157)
67	EVA	ss6289038318	Oct 30, 2024 (157)
68	EVA	ss6349546499	Oct 30, 2024 (157)
69	KOGIC	ss6358689884	Oct 30, 2024 (157)
70	EVA	ss6403969915	Oct 30, 2024 (157)
71	GNOMAD	ss6416214822	Oct 30, 2024 (157)
72	GNOMAD	ss6416214823	Oct 30, 2024 (157)
73	GNOMAD	ss6574550048	Oct 30, 2024 (157)
74	GNOMAD	ss6574550049	Oct 30, 2024 (157)
75	TOMMO_GENOMICS	ss8157056132	Oct 30, 2024 (157)
76	EVA	ss8236979582	Oct 30, 2024 (157)
77	1000G_HIGH_COVERAGE	ss8252463064	Oct 30, 2024 (157)
78	TRAN_CS_UWATERLOO	ss8314405469	Oct 30, 2024 (157)
79	EVA	ss8314817567	Oct 30, 2024 (157)
80	EVA	ss8336823437	Oct 30, 2024 (157)
81	EVA	ss8512473839	Oct 30, 2024 (157)
82	1000G_HIGH_COVERAGE	ss8530019305	Oct 30, 2024 (157)
83	TOMMO_GENOMICS	ss8688107907	Oct 30, 2024 (157)
84	YY_MCH	ss8803328110	Oct 30, 2024 (157)
85	EVA	ss8847907907	Oct 30, 2024 (157)
86	EVA	ss8935201225	Oct 30, 2024 (157)
87	EVA	ss8935625806	Oct 30, 2024 (157)
88	EVA	ss8957463896	Oct 30, 2024 (157)
89	EVA	ss8981875245	Oct 30, 2024 (157)
90	EVA	ss8982417363	Oct 30, 2024 (157)
91	1000Genomes	NC_000002.11 - 234669619	Oct 11, 2018 (152)
92	1000Genomes_30X	NC_000002.12 - 233760973	Oct 30, 2024 (157)
93	ExAC Submission ignored due to conflicting rows: Row 6709037 (NC_000002.11:234669618:C:C 121246/121412, NC_000002.11:234669618:C:A 166/121412) Row 6709038 (NC_000002.11:234669618:C:C 121406/121412, NC_000002.11:234669618:C:T 6/121412)	-	Oct 11, 2018 (152)
94	ExAC Submission ignored due to conflicting rows: Row 6709037 (NC_000002.11:234669618:C:C 121246/121412, NC_000002.11:234669618:C:A 166/121412) Row 6709038 (NC_000002.11:234669618:C:C 121406/121412, NC_000002.11:234669618:C:T 6/121412)	-	Oct 11, 2018 (152)
95	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 11517757 (NC_000002.12:233760972:C:A 505/1401496) Row 11517758 (NC_000002.12:233760972:C:T 62/1401496)	-	Oct 30, 2024 (157)
96	gnomAD v4 - Exomes Submission ignored due to conflicting rows: Row 11517757 (NC_000002.12:233760972:C:A 505/1401496) Row 11517758 (NC_000002.12:233760972:C:T 62/1401496)	-	Oct 30, 2024 (157)
97	gnomAD v4 - Genomes Submission ignored due to conflicting rows: Row 101029077 (NC_000002.12:233760972:C:A 125/149256) Row 101029078 (NC_000002.12:233760972:C:T 9/149162)	-	Oct 30, 2024 (157)
98	gnomAD v4 - Genomes Submission ignored due to conflicting rows: Row 101029077 (NC_000002.12:233760972:C:A 125/149256) Row 101029078 (NC_000002.12:233760972:C:T 9/149162)	-	Oct 30, 2024 (157)
99	KOREAN population from KRGDB	NC_000002.11 - 234669619	Apr 25, 2020 (154)
100	Korean Genome Project	NC_000002.12 - 233760973	Apr 25, 2020 (154)
101	Korean Genome Project 4K	NC_000002.12 - 233760973	Oct 30, 2024 (157)
102	Medical Genome Project healthy controls from Spanish population	NC_000002.11 - 234669619	Apr 25, 2020 (154)
103	The PAGE Study	NC_000002.12 - 233760973	Jul 13, 2019 (153)
104	CNV burdens in cranial meningiomas	NC_000002.11 - 234669619	Apr 26, 2021 (155)
105	MxGDAR/Encodat-PGx	NC_000002.11 - 234669619	Apr 26, 2021 (155)
106	PharmGKB Aggregated	NC_000002.12 - 233760973	Apr 25, 2020 (154)
107	SGDP_PRJ	NC_000002.11 - 234669619	Apr 25, 2020 (154)
108	38KJPN	NC_000002.12 - 233760973	Oct 30, 2024 (157)
109	TopMed Submission ignored due to conflicting rows: Row 352656427 (NC_000002.12:233760972:C:A 248/264690) Row 352656428 (NC_000002.12:233760972:C:T 11/264690)	-	Apr 26, 2021 (155)
110	TopMed Submission ignored due to conflicting rows: Row 352656427 (NC_000002.12:233760972:C:A 248/264690) Row 352656428 (NC_000002.12:233760972:C:T 11/264690)	-	Apr 26, 2021 (155)
111	A Vietnamese Genetic Variation Database	NC_000002.11 - 234669619	Jul 13, 2019 (153)
112	ALFA	NC_000002.12 - 233760973	Oct 30, 2024 (157)
113	ClinVar	RCV000013062.35	Oct 30, 2024 (157)
114	ClinVar	RCV000013063.33	Oct 30, 2024 (157)
115	ClinVar	RCV000147905.21	Oct 30, 2024 (157)
116	ClinVar	RCV000299521.32	Oct 30, 2024 (157)
117	ClinVar	RCV001913560.9	Oct 30, 2024 (157)
118	ClinVar	RCV002503572.1	Oct 30, 2024 (157)
119	ClinVar	RCV004532328.1	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)
rs45627238	Mar 05, 2008 (129)
rs58748723	Mar 05, 2008 (129)
rs113132151	Oct 26, 2010 (133)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1712539937, ss3643289842	NC_000002.10:234334357:C:A	NC_000002.12:233760972:C:A	(self)
13257667, 7780615, 117879, 49286, 1052, 6871071, 1594077, ss455907387, ss489858463, ss491333417, ss537178767, ss649966241, ss780802956, ss783484441, ss832615452, ss1302134526, ss1686799536, ss1711001340, ss1752345228, ss1917761551, ss1946070040, ss1958518590, ss1966654958, ss2633755419, ss2703935221, ss2733431929, ss2746910173, ss2787712093, ss2985203956, ss2985825279, ss3022083134, ss3628314210, ss3628314211, ss3634818224, ss3638325649, ss3638325650, ss3640525523, ss3644772744, ss3652535941, ss3653971975, ss3744488893, ss3745118113, ss3758234706, ss3772614488, ss3854854091, ss3900603221, ss3984448051, ss3984499946, ss6289038318, ss6349546499, ss8157056132, ss8314817567, ss8336823437, ss8512473839, ss8847907907, ss8935625806, ss8957463896, ss8981875245, ss8982417363	NC_000002.11:234669618:C:A	NC_000002.12:233760972:C:A	(self)
RCV000013062.35, RCV000013063.33, RCV000147905.21, RCV000299521.32, RCV004532328.1, 17545240, 6713511, 8541782, 217778, 6982, 36416998, 11408223313, ss244317395, ss537712802, ss2240160707, ss3706266243, ss3725884838, ss3770996309, ss3802597188, ss3950335510, ss4548833548, ss6019041178, ss6358689884, ss6416214822, ss6574550048, ss8236979582, ss8252463064, ss8314405469, ss8530019305, ss8688107907, ss8803328110, ss8935201225	NC_000002.12:233760972:C:A	NC_000002.12:233760972:C:A	(self)
ss69367664, ss69369600, ss75924906, ss84169602, ss105440332, ss152536529, ss159102656, ss169483346, ss173599658	NT_005120.16:615877:C:A	NC_000002.12:233760972:C:A	(self)
ss342105647, ss1686799537, ss2733431929, ss2746910173, ss2787712093, ss3823868938, ss6403969915, ss8935625806	NC_000002.11:234669618:C:T	NC_000002.12:233760972:C:T	(self)
RCV001913560.9, RCV002503572.1, 11408223313, ss2240160707, ss4548833549, ss6416214823, ss6574550049	NC_000002.12:233760972:C:T	NC_000002.12:233760972:C:T	(self)

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

15 citations for rs35350960

PMID	Title	Author	Year	Journal
6480579	The molecular weights of UDP-glucuronyltransferase determined with radiation-inactivation analysis. A molecular model of bilirubin UDP-glucuronyltransferase.	Peters WH et al.	1984	The Journal of biological chemistry
8528206	Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.	Koiwai O et al.	1995	Human molecular genetics
9295054	The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence.	Mackenzie PI et al.	1997	Pharmacogenetics
9621515	Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.	Yamamoto K et al.	1998	Journal of human genetics
18004206	Influence of mutations associated with Gilbert and Crigler-Najjar type II syndromes on the glucuronidation kinetics of bilirubin and other UDP-glucuronosyltransferase 1A substrates.	Udomuksorn W et al.	2007	Pharmacogenetics and genomics
18414213	ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.	Richards CS et al.	2008	Genetics in medicine
18547414	Genotyping panel for assessing response to cancer chemotherapy.	Dai Z et al.	2008	BMC medical genomics
22866151	Prevalence of topoisomerase I genetic mutations and UGT1A1 polymorphisms associated with irinotecan in individuals of Asian descent.	Fukui T et al.	2011	Oncology letters
22888291	Genetic variants and haplotypes of the UGT1A9, 1A7 and 1A1 genes in Chinese Han.	Zhang X et al.	2012	Genetics and molecular biology
24339312	Comprehensive variant screening of the UGT gene family.	Kim JY et al.	2014	Yonsei medical journal
25110414	Pharmacogenetics research on chemotherapy resistance in colorectal cancer over the last 20 years.	Panczyk M et al.	2014	World journal of gastroenterology
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
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
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.

Genome context:

Select flank length:

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).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs35350960