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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.

rs4732513

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:75978290 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.466024 (123352/264690, TOPMED)
C=0.366825 (60182/164062, ALFA)
C=0.434388 (60810/139990, GnomAD) (+ 20 more)
T=0.41822 (11818/28258, 14KJPN)
T=0.41813 (7007/16758, 8.3KJPN)
T=0.4883 (3127/6404, 1000G_30x)
T=0.4952 (2480/5008, 1000G)
C=0.2920 (1308/4480, Estonian)
C=0.3521 (1357/3854, ALSPAC)
C=0.3449 (1279/3708, TWINSUK)
T=0.4051 (1187/2930, KOREAN)
C=0.4995 (1041/2084, HGDP_Stanford)
T=0.4302 (814/1892, HapMap)
T=0.3930 (720/1832, Korea1K)
C=0.341 (340/998, GoNL)
T=0.400 (315/788, PRJEB37584)
C=0.285 (171/600, NorthernSweden)
C=0.329 (129/392, SGDP_PRJ)
T=0.481 (104/216, Qatari)
T=0.415 (88/212, Vietnamese)
C=0.48 (26/54, Ancient Sardinia)
C=0.20 (9/46, Siberian)
C=0.33 (13/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
POR : Intron Variant
Publications
2 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 164062 C=0.366825 T=0.633175 0.138131 0.404481 0.457388 11
European Sub 141822 C=0.349424 T=0.650576 0.121942 0.423094 0.454965 0
African Sub 5408 C=0.5823 T=0.4177 0.33358 0.169009 0.497411 1
African Others Sub 188 C=0.638 T=0.362 0.43617 0.159574 0.404255 1
African American Sub 5220 C=0.5803 T=0.4197 0.329885 0.169349 0.500766 1
Asian Sub 522 C=0.561 T=0.439 0.310345 0.187739 0.501916 0
East Asian Sub 444 C=0.570 T=0.430 0.31982 0.18018 0.5 0
Other Asian Sub 78 C=0.51 T=0.49 0.25641 0.230769 0.512821 0
Latin American 1 Sub 388 C=0.433 T=0.567 0.195876 0.329897 0.474227 0
Latin American 2 Sub 5620 C=0.5694 T=0.4306 0.33274 0.19395 0.47331 2
South Asian Sub 5006 C=0.3332 T=0.6668 0.115062 0.448662 0.436276 1
Other Sub 5296 C=0.4056 T=0.5944 0.166163 0.354985 0.478852 0


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 C=0.466024 T=0.533976
Allele Frequency Aggregator Total Global 164062 C=0.366825 T=0.633175
Allele Frequency Aggregator European Sub 141822 C=0.349424 T=0.650576
Allele Frequency Aggregator Latin American 2 Sub 5620 C=0.5694 T=0.4306
Allele Frequency Aggregator African Sub 5408 C=0.5823 T=0.4177
Allele Frequency Aggregator Other Sub 5296 C=0.4056 T=0.5944
Allele Frequency Aggregator South Asian Sub 5006 C=0.3332 T=0.6668
Allele Frequency Aggregator Asian Sub 522 C=0.561 T=0.439
Allele Frequency Aggregator Latin American 1 Sub 388 C=0.433 T=0.567
gnomAD - Genomes Global Study-wide 139990 C=0.434388 T=0.565612
gnomAD - Genomes European Sub 75848 C=0.33180 T=0.66820
gnomAD - Genomes African Sub 41920 C=0.58559 T=0.41441
gnomAD - Genomes American Sub 13622 C=0.49229 T=0.50771
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.4678 T=0.5322
gnomAD - Genomes East Asian Sub 3122 C=0.6047 T=0.3953
gnomAD - Genomes Other Sub 2154 C=0.4396 T=0.5604
14KJPN JAPANESE Study-wide 28258 C=0.58178 T=0.41822
8.3KJPN JAPANESE Study-wide 16758 C=0.58187 T=0.41813
1000Genomes_30x Global Study-wide 6404 C=0.5117 T=0.4883
1000Genomes_30x African Sub 1786 C=0.6607 T=0.3393
1000Genomes_30x Europe Sub 1266 C=0.3610 T=0.6390
1000Genomes_30x South Asian Sub 1202 C=0.3070 T=0.6930
1000Genomes_30x East Asian Sub 1170 C=0.6094 T=0.3906
1000Genomes_30x American Sub 980 C=0.569 T=0.431
1000Genomes Global Study-wide 5008 C=0.5048 T=0.4952
1000Genomes African Sub 1322 C=0.6505 T=0.3495
1000Genomes East Asian Sub 1008 C=0.6081 T=0.3919
1000Genomes Europe Sub 1006 C=0.3579 T=0.6421
1000Genomes South Asian Sub 978 C=0.308 T=0.692
1000Genomes American Sub 694 C=0.568 T=0.432
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.2920 T=0.7080
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.3521 T=0.6479
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.3449 T=0.6551
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.5949 T=0.4051
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.4995 T=0.5005
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.630 T=0.370
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.329 T=0.671
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.457 T=0.543
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.322 T=0.678
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.541 T=0.459
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.764 T=0.236
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.69 T=0.31
HapMap Global Study-wide 1892 C=0.5698 T=0.4302
HapMap American Sub 770 C=0.479 T=0.521
HapMap African Sub 692 C=0.697 T=0.303
HapMap Asian Sub 254 C=0.610 T=0.390
HapMap Europe Sub 176 C=0.409 T=0.591
Korean Genome Project KOREAN Study-wide 1832 C=0.6070 T=0.3930
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.341 T=0.659
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.600 T=0.400
CNV burdens in cranial meningiomas CRM Sub 788 C=0.600 T=0.400
Northern Sweden ACPOP Study-wide 600 C=0.285 T=0.715
SGDP_PRJ Global Study-wide 392 C=0.329 T=0.671
Qatari Global Study-wide 216 C=0.519 T=0.481
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.585 T=0.415
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 54 C=0.48 T=0.52
Siberian Global Study-wide 46 C=0.20 T=0.80
The Danish reference pan genome Danish Study-wide 40 C=0.33 T=0.68
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.p14 chr 7 NC_000007.14:g.75978290C>T
GRCh37.p13 chr 7 NC_000007.13:g.75607608C>T
POR RefSeqGene NG_008930.1:g.68189C>T
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.3507526C>T
Gene: POR, cytochrome p450 oxidoreductase (plus strand)
Molecule type Change Amino acid[Codon] SO Term
POR transcript variant 1 NM_001367562.3:c.229-1161…

NM_001367562.3:c.229-1161C>T

N/A Intron Variant
POR transcript variant 6 NM_001382655.3:c.283-1161…

NM_001382655.3:c.283-1161C>T

N/A Intron Variant
POR transcript variant 3 NM_001382657.2:c.229-1161…

NM_001382657.2:c.229-1161C>T

N/A Intron Variant
POR transcript variant 4 NM_001382658.3:c.229-1161…

NM_001382658.3:c.229-1161C>T

N/A Intron Variant
POR transcript variant 5 NM_001382659.3:c.229-1161…

NM_001382659.3:c.229-1161C>T

N/A Intron Variant
POR transcript variant 7 NM_001382662.3:c.229-1161…

NM_001382662.3:c.229-1161C>T

N/A Intron Variant
POR transcript variant 2 NM_001395413.1:c.229-1161…

NM_001395413.1:c.229-1161C>T

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.

Not Reported in ClinVar
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 C= T
GRCh38.p14 chr 7 NC_000007.14:g.75978290= NC_000007.14:g.75978290C>T
GRCh37.p13 chr 7 NC_000007.13:g.75607608= NC_000007.13:g.75607608C>T
POR RefSeqGene NG_008930.1:g.68189= NG_008930.1:g.68189C>T
GRCh37.p13 chr 7 fix patch HG1257_PATCH NW_003871064.1:g.3507526= NW_003871064.1:g.3507526C>T
POR transcript NM_000941.2:c.238-1161= NM_000941.2:c.238-1161C>T
POR transcript variant 1 NM_001367562.3:c.229-1161= NM_001367562.3:c.229-1161C>T
POR transcript variant 6 NM_001382655.3:c.283-1161= NM_001382655.3:c.283-1161C>T
POR transcript variant 3 NM_001382657.2:c.229-1161= NM_001382657.2:c.229-1161C>T
POR transcript variant 4 NM_001382658.3:c.229-1161= NM_001382658.3:c.229-1161C>T
POR transcript variant 5 NM_001382659.3:c.229-1161= NM_001382659.3:c.229-1161C>T
POR transcript variant 7 NM_001382662.3:c.229-1161= NM_001382662.3:c.229-1161C>T
POR transcript variant 2 NM_001395413.1:c.229-1161= NM_001395413.1:c.229-1161C>T
POR transcript variant X1 XM_005250459.1:c.238-1161= XM_005250459.1:c.238-1161C>T
POR transcript variant X3 XM_005250461.1:c.-214-1161= XM_005250461.1:c.-214-1161C>T
POR transcript variant X1 XM_005277600.1:c.238-1161= XM_005277600.1:c.238-1161C>T
POR transcript variant X3 XM_005277602.1:c.-214-1161= XM_005277602.1:c.-214-1161C>T
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#.

124 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss6523290 Feb 20, 2003 (111)
2 SSAHASNP ss22556921 Apr 05, 2004 (121)
3 PERLEGEN ss23431217 Sep 20, 2004 (123)
4 ABI ss44781016 Mar 15, 2006 (126)
5 ILLUMINA ss66684363 Dec 02, 2006 (127)
6 ILLUMINA ss67366625 Dec 02, 2006 (127)
7 ILLUMINA ss67751077 Dec 02, 2006 (127)
8 ILLUMINA ss70819923 May 25, 2008 (130)
9 ILLUMINA ss71401287 May 18, 2007 (127)
10 ILLUMINA ss75610698 Dec 06, 2007 (129)
11 ILLUMINA ss79192150 Dec 15, 2007 (130)
12 KRIBB_YJKIM ss84332963 Dec 15, 2007 (130)
13 HUMANGENOME_JCVI ss98163163 Feb 05, 2009 (130)
14 1000GENOMES ss112201501 Jan 25, 2009 (130)
15 ILLUMINA ss122369338 Dec 01, 2009 (131)
16 ENSEMBL ss143699662 Dec 01, 2009 (131)
17 ILLUMINA ss154311923 Dec 01, 2009 (131)
18 GMI ss155052596 Dec 01, 2009 (131)
19 ILLUMINA ss159488606 Dec 01, 2009 (131)
20 ILLUMINA ss160704134 Dec 01, 2009 (131)
21 COMPLETE_GENOMICS ss162445306 Jul 04, 2010 (132)
22 COMPLETE_GENOMICS ss166749763 Jul 04, 2010 (132)
23 ILLUMINA ss171886749 Jul 04, 2010 (132)
24 ILLUMINA ss173793700 Jul 04, 2010 (132)
25 BUSHMAN ss203509977 Jul 04, 2010 (132)
26 BCM-HGSC-SUB ss208219732 Jul 04, 2010 (132)
27 1000GENOMES ss212059676 Jul 14, 2010 (132)
28 1000GENOMES ss223144713 Jul 14, 2010 (132)
29 1000GENOMES ss234033155 Jul 15, 2010 (132)
30 1000GENOMES ss240976235 Jul 15, 2010 (132)
31 BL ss254437792 May 09, 2011 (134)
32 GMI ss279392100 May 04, 2012 (137)
33 GMI ss285658425 Apr 25, 2013 (138)
34 PJP ss293896017 May 09, 2011 (134)
35 ILLUMINA ss481022802 May 04, 2012 (137)
36 ILLUMINA ss481043852 May 04, 2012 (137)
37 ILLUMINA ss482030860 Sep 11, 2015 (146)
38 ILLUMINA ss485306419 May 04, 2012 (137)
39 ILLUMINA ss537265393 Sep 11, 2015 (146)
40 TISHKOFF ss560085076 Apr 25, 2013 (138)
41 SSMP ss654476363 Apr 25, 2013 (138)
42 ILLUMINA ss778544478 Sep 11, 2015 (146)
43 ILLUMINA ss783099034 Sep 11, 2015 (146)
44 ILLUMINA ss784056309 Sep 11, 2015 (146)
45 ILLUMINA ss825522668 Aug 21, 2014 (144)
46 ILLUMINA ss832357589 Sep 11, 2015 (146)
47 ILLUMINA ss833000013 Jul 13, 2019 (153)
48 ILLUMINA ss834001137 Sep 11, 2015 (146)
49 EVA-GONL ss984422641 Aug 21, 2014 (142)
50 JMKIDD_LAB ss1074708124 Aug 21, 2014 (142)
51 1000GENOMES ss1325695628 Aug 21, 2014 (142)
52 DDI ss1431174655 Apr 09, 2015 (144)
53 EVA_GENOME_DK ss1582260421 Apr 09, 2015 (144)
54 EVA_DECODE ss1593995339 Apr 01, 2015 (144)
55 EVA_UK10K_ALSPAC ss1618470947 Apr 09, 2015 (144)
56 EVA_UK10K_TWINSUK ss1661464980 Apr 09, 2015 (144)
57 EVA_SVP ss1712963064 Apr 01, 2015 (144)
58 ILLUMINA ss1752694342 Sep 11, 2015 (146)
59 HAMMER_LAB ss1805063896 Sep 11, 2015 (146)
60 WEILL_CORNELL_DGM ss1927681419 Feb 17, 2016 (147)
61 GENOMED ss1970733194 Sep 28, 2016 (149)
62 JJLAB ss2024523825 Sep 28, 2016 (149)
63 USC_VALOUEV ss2152742527 Oct 12, 2018 (152)
64 HUMAN_LONGEVITY ss2294894592 Dec 20, 2016 (150)
65 ILLUMINA ss2634619547 Oct 12, 2018 (152)
66 ILLUMINA ss2635173460 Nov 08, 2017 (151)
67 GRF ss2708440469 Oct 12, 2018 (152)
68 GNOMAD ss2854882137 Oct 12, 2018 (152)
69 SWEGEN ss3001442829 Oct 12, 2018 (152)
70 BIOINF_KMB_FNS_UNIBA ss3026055258 Nov 08, 2017 (151)
71 CSHL ss3347678700 Oct 12, 2018 (152)
72 ILLUMINA ss3629840629 Oct 12, 2018 (152)
73 ILLUMINA ss3632526294 Oct 12, 2018 (152)
74 ILLUMINA ss3633466627 Oct 12, 2018 (152)
75 ILLUMINA ss3634191738 Oct 12, 2018 (152)
76 ILLUMINA ss3635125741 Oct 12, 2018 (152)
77 ILLUMINA ss3635871469 Oct 12, 2018 (152)
78 ILLUMINA ss3636858759 Oct 12, 2018 (152)
79 ILLUMINA ss3637624444 Oct 12, 2018 (152)
80 ILLUMINA ss3638703860 Oct 12, 2018 (152)
81 ILLUMINA ss3639354164 Oct 12, 2018 (152)
82 ILLUMINA ss3639705263 Oct 12, 2018 (152)
83 ILLUMINA ss3640833032 Oct 12, 2018 (152)
84 ILLUMINA ss3641214886 Oct 12, 2018 (152)
85 ILLUMINA ss3641512340 Oct 12, 2018 (152)
86 ILLUMINA ss3643639315 Oct 12, 2018 (152)
87 URBANLAB ss3648675252 Oct 12, 2018 (152)
88 EGCUT_WGS ss3669202995 Jul 13, 2019 (153)
89 EVA_DECODE ss3719990552 Jul 13, 2019 (153)
90 ACPOP ss3734762892 Jul 13, 2019 (153)
91 ILLUMINA ss3745425755 Jul 13, 2019 (153)
92 EVA ss3766733364 Jul 13, 2019 (153)
93 ILLUMINA ss3772918676 Jul 13, 2019 (153)
94 PACBIO ss3785861540 Jul 13, 2019 (153)
95 PACBIO ss3791156954 Jul 13, 2019 (153)
96 PACBIO ss3796036830 Jul 13, 2019 (153)
97 KHV_HUMAN_GENOMES ss3809901082 Jul 13, 2019 (153)
98 EVA ss3830645277 Apr 26, 2020 (154)
99 EVA ss3838818498 Apr 26, 2020 (154)
100 EVA ss3844272813 Apr 26, 2020 (154)
101 HGDP ss3847880094 Apr 26, 2020 (154)
102 SGDP_PRJ ss3867635995 Apr 26, 2020 (154)
103 KRGDB ss3914885467 Apr 26, 2020 (154)
104 KOGIC ss3961876686 Apr 26, 2020 (154)
105 EVA ss3984589995 Apr 26, 2021 (155)
106 EVA ss3985302592 Apr 26, 2021 (155)
107 EVA ss4017341526 Apr 26, 2021 (155)
108 GNOMAD ss4166448583 Apr 26, 2021 (155)
109 TOPMED ss4750815895 Apr 26, 2021 (155)
110 TOMMO_GENOMICS ss5183912936 Apr 26, 2021 (155)
111 1000G_HIGH_COVERAGE ss5273461516 Oct 13, 2022 (156)
112 EVA ss5315256030 Oct 13, 2022 (156)
113 EVA ss5374471017 Oct 13, 2022 (156)
114 HUGCELL_USP ss5470496026 Oct 13, 2022 (156)
115 EVA ss5509006877 Oct 13, 2022 (156)
116 1000G_HIGH_COVERAGE ss5561931122 Oct 13, 2022 (156)
117 SANFORD_IMAGENETICS ss5643260967 Oct 13, 2022 (156)
118 TOMMO_GENOMICS ss5724402524 Oct 13, 2022 (156)
119 EVA ss5799727616 Oct 13, 2022 (156)
120 YY_MCH ss5808782806 Oct 13, 2022 (156)
121 EVA ss5823037446 Oct 13, 2022 (156)
122 EVA ss5855955700 Oct 13, 2022 (156)
123 EVA ss5859452881 Oct 13, 2022 (156)
124 EVA ss5972439819 Oct 13, 2022 (156)
125 1000Genomes NC_000007.13 - 75607608 Oct 12, 2018 (152)
126 1000Genomes_30x NC_000007.14 - 75978290 Oct 13, 2022 (156)
127 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 75607608 Oct 12, 2018 (152)
128 Genetic variation in the Estonian population NC_000007.13 - 75607608 Oct 12, 2018 (152)
129 The Danish reference pan genome NC_000007.13 - 75607608 Apr 26, 2020 (154)
130 gnomAD - Genomes NC_000007.14 - 75978290 Apr 26, 2021 (155)
131 Genome of the Netherlands Release 5 NC_000007.13 - 75607608 Apr 26, 2020 (154)
132 HGDP-CEPH-db Supplement 1 NC_000007.12 - 75445544 Apr 26, 2020 (154)
133 HapMap NC_000007.14 - 75978290 Apr 26, 2020 (154)
134 KOREAN population from KRGDB NC_000007.13 - 75607608 Apr 26, 2020 (154)
135 Korean Genome Project NC_000007.14 - 75978290 Apr 26, 2020 (154)
136 Northern Sweden NC_000007.13 - 75607608 Jul 13, 2019 (153)
137 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 75607608 Apr 26, 2021 (155)
138 CNV burdens in cranial meningiomas NC_000007.13 - 75607608 Apr 26, 2021 (155)
139 Qatari NC_000007.13 - 75607608 Apr 26, 2020 (154)
140 SGDP_PRJ NC_000007.13 - 75607608 Apr 26, 2020 (154)
141 Siberian NC_000007.13 - 75607608 Apr 26, 2020 (154)
142 8.3KJPN NC_000007.13 - 75607608 Apr 26, 2021 (155)
143 14KJPN NC_000007.14 - 75978290 Oct 13, 2022 (156)
144 TopMed NC_000007.14 - 75978290 Apr 26, 2021 (155)
145 UK 10K study - Twins NC_000007.13 - 75607608 Oct 12, 2018 (152)
146 A Vietnamese Genetic Variation Database NC_000007.13 - 75607608 Jul 13, 2019 (153)
147 ALFA NC_000007.14 - 75978290 Apr 26, 2021 (155)
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)
rs59424794 May 25, 2008 (130)
rs549179602 Jul 01, 2015 (144)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3639354164, ss3639705263 NC_000007.11:75252258:C:T NC_000007.14:75978289:C:T (self)
557986, ss23431217, ss112201501, ss162445306, ss166749763, ss203509977, ss208219732, ss212059676, ss254437792, ss279392100, ss285658425, ss293896017, ss481022802, ss825522668, ss1593995339, ss1712963064, ss2635173460, ss3643639315, ss3847880094 NC_000007.12:75445543:C:T NC_000007.14:75978289:C:T (self)
37684980, 20978021, 14941243, 8425360, 9365129, 22062861, 8047757, 528519, 139419, 9723349, 19652975, 5258881, 41882243, 20978021, 4674904, ss223144713, ss234033155, ss240976235, ss481043852, ss482030860, ss485306419, ss537265393, ss560085076, ss654476363, ss778544478, ss783099034, ss784056309, ss832357589, ss833000013, ss834001137, ss984422641, ss1074708124, ss1325695628, ss1431174655, ss1582260421, ss1618470947, ss1661464980, ss1752694342, ss1805063896, ss1927681419, ss1970733194, ss2024523825, ss2152742527, ss2634619547, ss2708440469, ss2854882137, ss3001442829, ss3347678700, ss3629840629, ss3632526294, ss3633466627, ss3634191738, ss3635125741, ss3635871469, ss3636858759, ss3637624444, ss3638703860, ss3640833032, ss3641214886, ss3641512340, ss3669202995, ss3734762892, ss3745425755, ss3766733364, ss3772918676, ss3785861540, ss3791156954, ss3796036830, ss3830645277, ss3838818498, ss3867635995, ss3914885467, ss3984589995, ss3985302592, ss4017341526, ss5183912936, ss5315256030, ss5374471017, ss5509006877, ss5643260967, ss5799727616, ss5823037446, ss5972439819 NC_000007.13:75607607:C:T NC_000007.14:75978289:C:T (self)
49457057, 265825354, 3421504, 18254687, 58239628, 588193454, 3422660948, ss2294894592, ss3026055258, ss3648675252, ss3719990552, ss3809901082, ss3844272813, ss3961876686, ss4166448583, ss4750815895, ss5273461516, ss5470496026, ss5561931122, ss5724402524, ss5808782806, ss5855955700, ss5859452881 NC_000007.14:75978289:C:T NC_000007.14:75978289:C:T (self)
ss22556921 NT_007933.13:841883:C:T NC_000007.14:75978289:C:T (self)
ss6523290, ss44781016, ss66684363, ss67366625, ss67751077, ss70819923, ss71401287, ss75610698, ss79192150, ss84332963, ss98163163, ss122369338, ss143699662, ss154311923, ss155052596, ss159488606, ss160704134, ss171886749, ss173793700 NT_007933.15:13640450:C:T NC_000007.14:75978289:C:T (self)
Help

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

2 citations for rs4732513
PMID Title Author Year Journal
28232737 Candidate Gene Association Studies of Anthracycline-induced Cardiotoxicity: A Systematic Review and Meta-analysis. Leong SL et al. 2017 Scientific reports
35335935 Role of Pharmacogenetics in the Treatment of Acute Myeloid Leukemia: Systematic Review and Future Perspectives. Pinto-Merino Á et al. 2022 Pharmaceutics
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.post820+afb47a3d