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dbSNP Short Genetic Variations

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.

rs4148324

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr2:233764076 (GRCh38.p13) 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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.354090 (93724/264690, TOPMED)
G=0.333156 (65162/195590, ALFA)
G=0.362510 (50734/139952, GnomAD) (+ 16 more)
G=0.11331 (1899/16760, 8.3KJPN)
G=0.3528 (1767/5008, 1000G)
G=0.3440 (1541/4480, Estonian)
G=0.3212 (1238/3854, ALSPAC)
G=0.3128 (1160/3708, TWINSUK)
G=0.1314 (385/2930, KOREAN)
G=0.3589 (679/1892, HapMap)
G=0.1299 (238/1832, Korea1K)
G=0.308 (307/998, GoNL)
G=0.322 (193/600, NorthernSweden)
T=0.376 (94/250, SGDP_PRJ)
G=0.319 (69/216, Qatari)
G=0.071 (15/212, Vietnamese)
G=0.257 (37/144, PharmGKB)
G=0.33 (13/40, GENOME_DK)
T=0.43 (12/28, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
UGT1A1 : Intron 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
7 citations
Genomic View
See rs on genome
Help

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.p13 chr 2 NC_000002.12:g.233764076T>A
GRCh38.p13 chr 2 NC_000002.12:g.233764076T>G
GRCh37.p13 chr 2 NC_000002.11:g.234672722T>A
GRCh37.p13 chr 2 NC_000002.11:g.234672722T>G
UGT1A RefSeqGene NG_002601.2:g.179333T>A
UGT1A RefSeqGene NG_002601.2:g.179333T>G
UGT1A1 RefSeqGene (LRG_733) NG_033238.1:g.8804T>A
UGT1A1 RefSeqGene (LRG_733) NG_033238.1:g.8804T>G
Gene: UGT1A1, UDP glucuronosyltransferase family 1 member A1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
UGT1A1 transcript NM_000463.3:c.864+2925T>A N/A Intron Variant
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.862-2958T>A N/A Intron Variant
UGT1A6 transcript variant 2 NM_205862.3:c.61-2958T>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.868-2958T>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.856-2958T>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.856-2958T>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.856-2958T>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.868-2958T>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.868-2958T>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.856-2958T>A N/A Intron Variant
Help

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: 798982 )
ClinVar Accession Disease Names Clinical Significance
RCV000999561.1 Gilbert's syndrome Benign

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 195590 T=0.666844 G=0.333156
European Sub 172498 T=0.672825 G=0.327175
African Sub 7094 T=0.5537 G=0.4463
African Others Sub 264 T=0.511 G=0.489
African American Sub 6830 T=0.5553 G=0.4447
Asian Sub 702 T=0.883 G=0.117
East Asian Sub 556 T=0.887 G=0.113
Other Asian Sub 146 T=0.870 G=0.130
Latin American 1 Sub 784 T=0.718 G=0.282
Latin American 2 Sub 2842 T=0.6710 G=0.3290
South Asian Sub 5038 T=0.5877 G=0.4123
Other Sub 6632 T=0.6616 G=0.3384


Help

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=0.645910 G=0.354090
gnomAD - Genomes Global Study-wide 139952 T=0.637490 G=0.362510
gnomAD - Genomes European Sub 75804 T=0.66407 G=0.33593
gnomAD - Genomes African Sub 41920 T=0.55747 G=0.44253
gnomAD - Genomes American Sub 13632 T=0.68163 G=0.31837
gnomAD - Genomes Ashkenazi Jewish Sub 3320 T=0.6193 G=0.3807
gnomAD - Genomes East Asian Sub 3122 T=0.8780 G=0.1220
gnomAD - Genomes Other Sub 2154 T=0.6597 G=0.3403
8.3KJPN JAPANESE Study-wide 16760 T=0.88669 G=0.11331
1000Genomes Global Study-wide 5008 T=0.6472 G=0.3528
1000Genomes African Sub 1322 T=0.5144 G=0.4856
1000Genomes East Asian Sub 1008 T=0.8700 G=0.1300
1000Genomes Europe Sub 1006 T=0.7018 G=0.2982
1000Genomes South Asian Sub 978 T=0.558 G=0.442
1000Genomes American Sub 694 T=0.622 G=0.378
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.6560 G=0.3440
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.6788 G=0.3212
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.6872 G=0.3128
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.8686 G=0.1314
HapMap Global Study-wide 1892 T=0.6411 G=0.3589
HapMap American Sub 770 T=0.678 G=0.322
HapMap African Sub 692 T=0.504 G=0.496
HapMap Asian Sub 254 T=0.835 G=0.165
HapMap Europe Sub 176 T=0.739 G=0.261
Korean Genome Project KOREAN Study-wide 1832 T=0.8701 G=0.1299
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.692 G=0.308
Northern Sweden ACPOP Study-wide 600 T=0.678 G=0.322
SGDP_PRJ Global Study-wide 250 T=0.376 G=0.624
Qatari Global Study-wide 216 T=0.681 G=0.319
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.929 G=0.071
PharmGKB Aggregated Global Study-wide 144 T=0.743 G=0.257
PharmGKB Aggregated PA130445544 Sub 144 T=0.743 G=0.257
The Danish reference pan genome Danish Study-wide 40 T=0.68 G=0.33
Siberian Global Study-wide 28 T=0.43 G=0.57
Help

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 G
GRCh38.p13 chr 2 NC_000002.12:g.233764076= NC_000002.12:g.233764076T>A NC_000002.12:g.233764076T>G
GRCh37.p13 chr 2 NC_000002.11:g.234672722= NC_000002.11:g.234672722T>A NC_000002.11:g.234672722T>G
UGT1A RefSeqGene NG_002601.2:g.179333= NG_002601.2:g.179333T>A NG_002601.2:g.179333T>G
UGT1A1 RefSeqGene (LRG_733) NG_033238.1:g.8804= NG_033238.1:g.8804T>A NG_033238.1:g.8804T>G
UGT1A1 transcript NM_000463.2:c.864+2925= NM_000463.2:c.864+2925T>A NM_000463.2:c.864+2925T>G
UGT1A1 transcript NM_000463.3:c.864+2925= NM_000463.3:c.864+2925T>A NM_000463.3:c.864+2925T>G
UGT1A6 transcript variant 1 NM_001072.3:c.862-2958= NM_001072.3:c.862-2958T>A NM_001072.3:c.862-2958T>G
UGT1A6 transcript variant 1 NM_001072.4:c.862-2958= NM_001072.4:c.862-2958T>A NM_001072.4:c.862-2958T>G
UGT1A4 transcript NM_007120.2:c.868-2958= NM_007120.2:c.868-2958T>A NM_007120.2:c.868-2958T>G
UGT1A4 transcript NM_007120.3:c.868-2958= NM_007120.3:c.868-2958T>A NM_007120.3:c.868-2958T>G
UGT1A10 transcript NM_019075.2:c.856-2958= NM_019075.2:c.856-2958T>A NM_019075.2:c.856-2958T>G
UGT1A10 transcript NM_019075.4:c.856-2958= NM_019075.4:c.856-2958T>A NM_019075.4:c.856-2958T>G
UGT1A8 transcript NM_019076.4:c.856-2958= NM_019076.4:c.856-2958T>A NM_019076.4:c.856-2958T>G
UGT1A8 transcript NM_019076.5:c.856-2958= NM_019076.5:c.856-2958T>A NM_019076.5:c.856-2958T>G
UGT1A7 transcript NM_019077.2:c.856-2958= NM_019077.2:c.856-2958T>A NM_019077.2:c.856-2958T>G
UGT1A7 transcript NM_019077.3:c.856-2958= NM_019077.3:c.856-2958T>A NM_019077.3:c.856-2958T>G
UGT1A5 transcript NM_019078.1:c.868-2958= NM_019078.1:c.868-2958T>A NM_019078.1:c.868-2958T>G
UGT1A5 transcript NM_019078.2:c.868-2958= NM_019078.2:c.868-2958T>A NM_019078.2:c.868-2958T>G
UGT1A3 transcript NM_019093.2:c.868-2958= NM_019093.2:c.868-2958T>A NM_019093.2:c.868-2958T>G
UGT1A3 transcript NM_019093.4:c.868-2958= NM_019093.4:c.868-2958T>A NM_019093.4:c.868-2958T>G
UGT1A9 transcript NM_021027.2:c.856-2958= NM_021027.2:c.856-2958T>A NM_021027.2:c.856-2958T>G
UGT1A9 transcript NM_021027.3:c.856-2958= NM_021027.3:c.856-2958T>A NM_021027.3:c.856-2958T>G
UGT1A6 transcript variant 2 NM_205862.1:c.61-2958= NM_205862.1:c.61-2958T>A NM_205862.1:c.61-2958T>G
UGT1A6 transcript variant 2 NM_205862.3:c.61-2958= NM_205862.3:c.61-2958T>A NM_205862.3:c.61-2958T>G
Help

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#.

99 SubSNP, 19 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 RIKENSNPRC ss5602104 Dec 16, 2002 (110)
2 BCM_SSAHASNP ss9908206 Jul 11, 2003 (116)
3 CSHL-HAPMAP ss16828983 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss17643355 Feb 27, 2004 (120)
5 SSAHASNP ss21662714 Apr 05, 2004 (121)
6 ABI ss44355712 Mar 13, 2006 (126)
7 EGP_SNPS ss50393235 Mar 13, 2006 (126)
8 PHARMGKB_PAAR-UCHI ss69369253 May 16, 2007 (127)
9 ILLUMINA ss75256120 Dec 07, 2007 (129)
10 HGSV ss78155372 Dec 07, 2007 (129)
11 HGSV ss82563532 Dec 14, 2007 (130)
12 HUMANGENOME_JCVI ss97132038 Feb 04, 2009 (130)
13 1000GENOMES ss110965229 Jan 25, 2009 (130)
14 1000GENOMES ss111825027 Jan 25, 2009 (130)
15 ILLUMINA-UK ss118123023 Feb 14, 2009 (130)
16 KRIBB_YJKIM ss119471148 Dec 01, 2009 (131)
17 ENSEMBL ss132931198 Dec 01, 2009 (131)
18 ILLUMINA ss154283844 Dec 01, 2009 (131)
19 ILLUMINA ss159460752 Dec 01, 2009 (131)
20 ILLUMINA ss160664236 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss165698678 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss167604290 Jul 04, 2010 (132)
23 ILLUMINA ss173693217 Jul 04, 2010 (132)
24 BUSHMAN ss201895655 Jul 04, 2010 (132)
25 BCM-HGSC-SUB ss205622589 Jul 04, 2010 (132)
26 1000GENOMES ss219881107 Jul 14, 2010 (132)
27 1000GENOMES ss231635580 Jul 14, 2010 (132)
28 1000GENOMES ss239083142 Jul 15, 2010 (132)
29 ILLUMINA ss244298923 Jul 04, 2010 (132)
30 GMI ss276944171 May 04, 2012 (137)
31 PJP ss292510949 May 09, 2011 (134)
32 ILLUMINA ss480898224 May 04, 2012 (137)
33 ILLUMINA ss480917092 May 04, 2012 (137)
34 ILLUMINA ss481871531 Sep 08, 2015 (146)
35 ILLUMINA ss485244107 May 04, 2012 (137)
36 ILLUMINA ss537217138 Sep 08, 2015 (146)
37 TISHKOFF ss556305451 Apr 25, 2013 (138)
38 SSMP ss649966248 Apr 25, 2013 (138)
39 ILLUMINA ss778903237 Aug 21, 2014 (142)
40 ILLUMINA ss783067999 Aug 21, 2014 (142)
41 ILLUMINA ss784025900 Aug 21, 2014 (142)
42 ILLUMINA ss832326077 Apr 01, 2015 (144)
43 ILLUMINA ss832972256 Aug 21, 2014 (142)
44 ILLUMINA ss833563085 Aug 21, 2014 (142)
45 ILLUMINA ss834364509 Aug 21, 2014 (142)
46 EVA-GONL ss978088594 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1070036254 Aug 21, 2014 (142)
48 1000GENOMES ss1302134614 Aug 21, 2014 (142)
49 DDI ss1428950095 Apr 01, 2015 (144)
50 EVA_GENOME_DK ss1579373561 Apr 01, 2015 (144)
51 EVA_DECODE ss1587548702 Apr 01, 2015 (144)
52 EVA_UK10K_ALSPAC ss1606057705 Apr 01, 2015 (144)
53 EVA_UK10K_TWINSUK ss1649051738 Apr 01, 2015 (144)
54 EVA_SVP ss1712539942 Apr 01, 2015 (144)
55 ILLUMINA ss1752345234 Sep 08, 2015 (146)
56 HAMMER_LAB ss1798566780 Sep 08, 2015 (146)
57 WEILL_CORNELL_DGM ss1921336188 Feb 12, 2016 (147)
58 GENOMED ss1969055574 Jul 19, 2016 (147)
59 JJLAB ss2021216403 Sep 14, 2016 (149)
60 USC_VALOUEV ss2149282521 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2240160861 Dec 20, 2016 (150)
62 TOPMED ss2406624664 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2625108469 Nov 08, 2017 (151)
64 ILLUMINA ss2633755426 Nov 08, 2017 (151)
65 GRF ss2703935228 Nov 08, 2017 (151)
66 GNOMAD ss2787712303 Nov 08, 2017 (151)
67 SWEGEN ss2991558458 Nov 08, 2017 (151)
68 BIOINF_KMB_FNS_UNIBA ss3024368354 Nov 08, 2017 (151)
69 TOPMED ss3341581803 Nov 08, 2017 (151)
70 CSHL ss3344798541 Nov 08, 2017 (151)
71 ILLUMINA ss3628314222 Oct 11, 2018 (152)
72 ILLUMINA ss3631714597 Oct 11, 2018 (152)
73 ILLUMINA ss3633238546 Oct 11, 2018 (152)
74 ILLUMINA ss3633951941 Oct 11, 2018 (152)
75 ILLUMINA ss3634818230 Oct 11, 2018 (152)
76 ILLUMINA ss3635637293 Oct 11, 2018 (152)
77 ILLUMINA ss3636508297 Oct 11, 2018 (152)
78 ILLUMINA ss3637389329 Oct 11, 2018 (152)
79 ILLUMINA ss3638325656 Oct 11, 2018 (152)
80 ILLUMINA ss3640525529 Oct 11, 2018 (152)
81 ILLUMINA ss3643289847 Oct 11, 2018 (152)
82 URBANLAB ss3647302827 Oct 11, 2018 (152)
83 EGCUT_WGS ss3659455991 Jul 13, 2019 (153)
84 EVA_DECODE ss3706266270 Jul 13, 2019 (153)
85 ACPOP ss3729481033 Jul 13, 2019 (153)
86 ILLUMINA ss3745118119 Jul 13, 2019 (153)
87 EVA ss3758234722 Jul 13, 2019 (153)
88 ILLUMINA ss3772614494 Jul 13, 2019 (153)
89 KHV_HUMAN_GENOMES ss3802597206 Jul 13, 2019 (153)
90 EVA ss3827569850 Apr 25, 2020 (154)
91 EVA ss3837205324 Apr 25, 2020 (154)
92 EVA ss3842627999 Apr 25, 2020 (154)
93 SGDP_PRJ ss3854854124 Apr 25, 2020 (154)
94 KRGDB ss3900603265 Apr 25, 2020 (154)
95 KOGIC ss3950335548 Apr 25, 2020 (154)
96 EVA ss4017055758 Apr 26, 2021 (155)
97 TOPMED ss4548834262 Apr 26, 2021 (155)
98 TOMMO_GENOMICS ss5157056204 Apr 26, 2021 (155)
99 EVA ss5237314361 Apr 26, 2021 (155)
100 1000Genomes NC_000002.11 - 234672722 Oct 11, 2018 (152)
101 The Avon Longitudinal Study of Parents and Children NC_000002.11 - 234672722 Oct 11, 2018 (152)
102 Genetic variation in the Estonian population NC_000002.11 - 234672722 Oct 11, 2018 (152)
103 The Danish reference pan genome NC_000002.11 - 234672722 Apr 25, 2020 (154)
104 gnomAD - Genomes NC_000002.12 - 233764076 Apr 26, 2021 (155)
105 Genome of the Netherlands Release 5 NC_000002.11 - 234672722 Apr 25, 2020 (154)
106 HapMap NC_000002.12 - 233764076 Apr 25, 2020 (154)
107 KOREAN population from KRGDB NC_000002.11 - 234672722 Apr 25, 2020 (154)
108 Korean Genome Project NC_000002.12 - 233764076 Apr 25, 2020 (154)
109 Northern Sweden NC_000002.11 - 234672722 Jul 13, 2019 (153)
110 PharmGKB Aggregated NC_000002.12 - 233764076 Apr 25, 2020 (154)
111 Qatari NC_000002.11 - 234672722 Apr 25, 2020 (154)
112 SGDP_PRJ NC_000002.11 - 234672722 Apr 25, 2020 (154)
113 Siberian NC_000002.11 - 234672722 Apr 25, 2020 (154)
114 8.3KJPN NC_000002.11 - 234672722 Apr 26, 2021 (155)
115 TopMed NC_000002.12 - 233764076 Apr 26, 2021 (155)
116 UK 10K study - Twins NC_000002.11 - 234672722 Oct 11, 2018 (152)
117 A Vietnamese Genetic Variation Database NC_000002.11 - 234672722 Jul 13, 2019 (153)
118 ALFA NC_000002.12 - 233764076 Apr 26, 2021 (155)
119 ClinVar RCV000999561.1 Apr 25, 2020 (154)
Help

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)
rs34270683 May 23, 2006 (127)
rs58090988 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2240160861 NC_000002.12:233764075:T:A NC_000002.12:233764075:T:A (self)
ss78155372, ss82563532 NC_000002.9:234454721:T:G NC_000002.12:233764075:T:G (self)
ss110965229, ss111825027, ss118123023, ss160664236, ss165698678, ss167604290, ss201895655, ss205622589, ss244298923, ss276944171, ss292510949, ss480898224, ss1587548702, ss1712539942, ss3643289847 NC_000002.10:234337460:T:G NC_000002.12:233764075:T:G (self)
13257758, 7342987, 5194239, 5538500, 3217083, 7780659, 2765898, 3378118, 6871104, 1798875, 15025511, 7342987, 1594087, ss219881107, ss231635580, ss239083142, ss480917092, ss481871531, ss485244107, ss537217138, ss556305451, ss649966248, ss778903237, ss783067999, ss784025900, ss832326077, ss832972256, ss833563085, ss834364509, ss978088594, ss1070036254, ss1302134614, ss1428950095, ss1579373561, ss1606057705, ss1649051738, ss1752345234, ss1798566780, ss1921336188, ss1969055574, ss2021216403, ss2149282521, ss2406624664, ss2625108469, ss2633755426, ss2703935228, ss2787712303, ss2991558458, ss3344798541, ss3628314222, ss3631714597, ss3633238546, ss3633951941, ss3634818230, ss3635637293, ss3636508297, ss3637389329, ss3638325656, ss3640525529, ss3659455991, ss3729481033, ss3745118119, ss3758234722, ss3772614494, ss3827569850, ss3837205324, ss3854854124, ss3900603265, ss4017055758, ss5157056204, ss5237314361 NC_000002.11:234672721:T:G NC_000002.12:233764075:T:G (self)
RCV000999561.1, 94462000, 2035247, 6713549, 6991, 220149833, 352657141, 13519560565, ss2240160861, ss3024368354, ss3341581803, ss3647302827, ss3706266270, ss3802597206, ss3842627999, ss3950335548, ss4548834262 NC_000002.12:233764075:T:G NC_000002.12:233764075:T:G (self)
ss9908206 NT_005120.13:603255:T:G NC_000002.12:233764075:T:G (self)
ss16828983, ss17643355, ss21662714 NT_005120.14:603255:T:G NC_000002.12:233764075:T:G (self)
ss5602104, ss44355712, ss50393235, ss69369253, ss75256120, ss97132038, ss119471148, ss132931198, ss154283844, ss159460752, ss173693217 NT_005120.16:618980:T:G NC_000002.12:233764075:T:G (self)
Help

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

7 citations for rs4148324
PMID Title Author Year Journal
19414484 Genome-wide association meta-analysis for total serum bilirubin levels. Johnson AD et al. 2009 Human molecular genetics
22511988 A genome-wide association study identifies UGT1A1 as a regulator of serum cell-free DNA in young adults: The Cardiovascular Risk in Young Finns Study. Jylhävä J et al. 2012 PloS one
22558097 A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. Milton JN et al. 2012 PloS one
26039129 Exome-Wide Association Study Identifies New Low-Frequency and Rare UGT1A1 Coding Variants and UGT1A6 Coding Variants Influencing Serum Bilirubin in Elderly Subjects: A Strobe Compliant Article. Oussalah A et al. 2015 Medicine
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
27957738 Quantitative analysis of single-nucleotide polymorphisms by pyrosequencing with di-base addition. Pu D et al. 2017 Electrophoresis
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
Help

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.

Software version is: 2.0.1.post596+ae089ad