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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.

rs1050112

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:24435159 (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
G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.371555 (116924/314688, ALFA)
T=0.391197 (103546/264690, TOPMED)
T=0.366483 (92144/251428, GnomAD_exome) (+ 22 more)
T=0.400998 (56102/139906, GnomAD)
T=0.368705 (44749/121368, ExAC)
T=0.40298 (31696/78654, PAGE_STUDY)
T=0.29368 (4922/16760, 8.3KJPN)
T=0.40589 (5279/13006, GO-ESP)
T=0.3850 (1928/5008, 1000G)
T=0.3573 (1377/3854, ALSPAC)
T=0.3714 (1377/3708, TWINSUK)
T=0.2935 (860/2930, KOREAN)
T=0.3906 (739/1892, HapMap)
T=0.2915 (534/1832, Korea1K)
T=0.2875 (326/1134, Daghestan)
T=0.380 (379/998, GoNL)
T=0.308 (243/790, PRJEB37584)
G=0.495 (304/614, Vietnamese)
T=0.390 (234/600, NorthernSweden)
T=0.343 (183/534, MGP)
G=0.355 (118/332, SGDP_PRJ)
T=0.401 (122/304, FINRISK)
T=0.356 (77/216, Qatari)
T=0.42 (17/40, GENOME_DK)
G=0.32 (7/22, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARP4 : Missense Variant
Publications
1 citation
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 13 NC_000013.11:g.24435159G>T
GRCh37.p13 chr 13 NC_000013.10:g.25009297G>T
Gene: PARP4, poly(ADP-ribose) polymerase family member 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
PARP4 transcript NM_006437.4:c.3982C>A P [CCC] > T [ACC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 NP_006428.2:p.Pro1328Thr P (Pro) > T (Thr) Missense Variant
PARP4 transcript variant X1 XM_011534931.1:c.4123C>A P [CCC] > T [ACC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 isoform X1 XP_011533233.1:p.Pro1375T…

XP_011533233.1:p.Pro1375Thr

P (Pro) > T (Thr) Missense Variant
PARP4 transcript variant X2 XM_011534932.2:c.3982C>A P [CCC] > T [ACC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 isoform X2 XP_011533234.1:p.Pro1328T…

XP_011533234.1:p.Pro1328Thr

P (Pro) > T (Thr) Missense Variant
PARP4 transcript variant X3 XR_941496.1:n.4138C>A N/A Non Coding Transcript 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

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 314688 G=0.628445 T=0.371555
European Sub 270384 G=0.631110 T=0.368890
African Sub 11306 G=0.54113 T=0.45887
African Others Sub 388 G=0.497 T=0.503
African American Sub 10918 G=0.54268 T=0.45732
Asian Sub 6836 G=0.6466 T=0.3534
East Asian Sub 4884 G=0.6714 T=0.3286
Other Asian Sub 1952 G=0.5845 T=0.4155
Latin American 1 Sub 1338 G=0.6061 T=0.3939
Latin American 2 Sub 2608 G=0.6748 T=0.3252
South Asian Sub 368 G=0.698 T=0.302
Other Sub 21848 G=0.62962 T=0.37038


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 G=0.608803 T=0.391197
gnomAD - Exomes Global Study-wide 251428 G=0.633517 T=0.366483
gnomAD - Exomes European Sub 135374 G=0.616972 T=0.383028
gnomAD - Exomes Asian Sub 49006 G=0.67786 T=0.32214
gnomAD - Exomes American Sub 34584 G=0.68361 T=0.31639
gnomAD - Exomes African Sub 16252 G=0.53698 T=0.46302
gnomAD - Exomes Ashkenazi Jewish Sub 10074 G=0.62766 T=0.37234
gnomAD - Exomes Other Sub 6138 G=0.6274 T=0.3726
gnomAD - Genomes Global Study-wide 139906 G=0.599002 T=0.400998
gnomAD - Genomes European Sub 75820 G=0.62147 T=0.37853
gnomAD - Genomes African Sub 41890 G=0.53970 T=0.46030
gnomAD - Genomes American Sub 13618 G=0.63791 T=0.36209
gnomAD - Genomes Ashkenazi Jewish Sub 3316 G=0.6233 T=0.3767
gnomAD - Genomes East Asian Sub 3118 G=0.6424 T=0.3576
gnomAD - Genomes Other Sub 2144 G=0.6152 T=0.3848
ExAC Global Study-wide 121368 G=0.631295 T=0.368705
ExAC Europe Sub 73330 G=0.61780 T=0.38220
ExAC Asian Sub 25154 G=0.68136 T=0.31864
ExAC American Sub 11570 G=0.69974 T=0.30026
ExAC African Sub 10406 G=0.52969 T=0.47031
ExAC Other Sub 908 G=0.627 T=0.373
The PAGE Study Global Study-wide 78654 G=0.59702 T=0.40298
The PAGE Study AfricanAmerican Sub 32490 G=0.54524 T=0.45476
The PAGE Study Mexican Sub 10804 G=0.67688 T=0.32312
The PAGE Study Asian Sub 8314 G=0.6868 T=0.3132
The PAGE Study PuertoRican Sub 7914 G=0.6242 T=0.3758
The PAGE Study NativeHawaiian Sub 4530 G=0.4411 T=0.5589
The PAGE Study Cuban Sub 4230 G=0.6340 T=0.3660
The PAGE Study Dominican Sub 3828 G=0.6267 T=0.3733
The PAGE Study CentralAmerican Sub 2450 G=0.6367 T=0.3633
The PAGE Study SouthAmerican Sub 1980 G=0.6323 T=0.3677
The PAGE Study NativeAmerican Sub 1258 G=0.6129 T=0.3871
The PAGE Study SouthAsian Sub 856 G=0.722 T=0.278
8.3KJPN JAPANESE Study-wide 16760 G=0.70632 T=0.29368
GO Exome Sequencing Project Global Study-wide 13006 G=0.59411 T=0.40589
GO Exome Sequencing Project European American Sub 8600 G=0.6274 T=0.3726
GO Exome Sequencing Project African American Sub 4406 G=0.5291 T=0.4709
1000Genomes Global Study-wide 5008 G=0.6150 T=0.3850
1000Genomes African Sub 1322 G=0.5151 T=0.4849
1000Genomes East Asian Sub 1008 G=0.6399 T=0.3601
1000Genomes Europe Sub 1006 G=0.5885 T=0.4115
1000Genomes South Asian Sub 978 G=0.725 T=0.275
1000Genomes American Sub 694 G=0.653 T=0.347
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6427 T=0.3573
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6286 T=0.3714
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.7065 T=0.2935
HapMap Global Study-wide 1892 G=0.6094 T=0.3906
HapMap American Sub 770 G=0.630 T=0.370
HapMap African Sub 692 G=0.552 T=0.448
HapMap Asian Sub 254 G=0.709 T=0.291
HapMap Europe Sub 176 G=0.602 T=0.398
Korean Genome Project KOREAN Study-wide 1832 G=0.7085 T=0.2915
Genome-wide autozygosity in Daghestan Global Study-wide 1134 G=0.7125 T=0.2875
Genome-wide autozygosity in Daghestan Daghestan Sub 626 G=0.725 T=0.275
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.667 T=0.333
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.746 T=0.254
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.667 T=0.333
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.78 T=0.22
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.53 T=0.47
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.620 T=0.380
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.692 T=0.308
CNV burdens in cranial meningiomas CRM Sub 790 G=0.692 T=0.308
A Vietnamese Genetic Variation Database Global Study-wide 614 G=0.495 T=0.505
Northern Sweden ACPOP Study-wide 600 G=0.610 T=0.390
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.657 T=0.343
SGDP_PRJ Global Study-wide 332 G=0.355 T=0.645
FINRISK Finnish from FINRISK project Study-wide 304 G=0.599 T=0.401
Qatari Global Study-wide 216 G=0.644 T=0.356
The Danish reference pan genome Danish Study-wide 40 G=0.57 T=0.42
Siberian Global Study-wide 22 G=0.32 T=0.68
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 G= T
GRCh38.p13 chr 13 NC_000013.11:g.24435159= NC_000013.11:g.24435159G>T
GRCh37.p13 chr 13 NC_000013.10:g.25009297= NC_000013.10:g.25009297G>T
PARP4 transcript NM_006437.4:c.3982= NM_006437.4:c.3982C>A
PARP4 transcript NM_006437.3:c.3982= NM_006437.3:c.3982C>A
PARP4 transcript variant X2 XM_011534932.2:c.3982= XM_011534932.2:c.3982C>A
PARP4 transcript variant X3 XR_941496.1:n.4138= XR_941496.1:n.4138C>A
PARP4 transcript variant X1 XM_011534931.1:c.4123= XM_011534931.1:c.4123C>A
protein mono-ADP-ribosyltransferase PARP4 NP_006428.2:p.Pro1328= NP_006428.2:p.Pro1328Thr
protein mono-ADP-ribosyltransferase PARP4 isoform X2 XP_011533234.1:p.Pro1328= XP_011533234.1:p.Pro1328Thr
protein mono-ADP-ribosyltransferase PARP4 isoform X1 XP_011533233.1:p.Pro1375= XP_011533233.1:p.Pro1375Thr
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#.

137 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1524439 Oct 05, 2000 (86)
2 LEE ss4415330 May 29, 2002 (106)
3 YUSUKE ss4928181 Aug 28, 2002 (108)
4 SNP500CANCER ss5586216 Mar 31, 2003 (113)
5 WI_SSAHASNP ss12259153 Jul 11, 2003 (116)
6 SC_SNP ss13160221 Dec 05, 2003 (119)
7 CGAP-GAI ss16262970 Feb 27, 2004 (120)
8 CSHL-HAPMAP ss17496784 Feb 27, 2004 (120)
9 ABI ss43472112 Mar 15, 2006 (126)
10 PERLEGEN ss69128241 May 16, 2007 (127)
11 ILLUMINA ss75304935 Dec 06, 2007 (129)
12 SI_EXO ss76896723 Dec 06, 2007 (129)
13 HGSV ss84775062 Dec 15, 2007 (130)
14 CORNELL ss86272099 Mar 23, 2008 (129)
15 BCMHGSC_JDW ss89535411 Mar 24, 2008 (129)
16 1000GENOMES ss114417926 Jan 25, 2009 (130)
17 ILLUMINA-UK ss118388956 Feb 14, 2009 (130)
18 KRIBB_YJKIM ss119380345 Dec 01, 2009 (131)
19 ILLUMINA ss123397467 Dec 01, 2009 (131)
20 ENSEMBL ss133485240 Dec 01, 2009 (131)
21 ILLUMINA ss152761938 Dec 01, 2009 (131)
22 GMI ss154535295 Dec 01, 2009 (131)
23 SEATTLESEQ ss159727865 Dec 01, 2009 (131)
24 ILLUMINA ss159903581 Dec 01, 2009 (131)
25 ENSEMBL ss161582234 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss167713934 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss168970393 Jul 04, 2010 (132)
28 ILLUMINA ss169474844 Jul 04, 2010 (132)
29 ILLUMINA ss170239748 Jul 04, 2010 (132)
30 COMPLETE_GENOMICS ss170881923 Jul 04, 2010 (132)
31 BUSHMAN ss198972769 Jul 04, 2010 (132)
32 1000GENOMES ss226080190 Jul 14, 2010 (132)
33 1000GENOMES ss236176501 Jul 15, 2010 (132)
34 1000GENOMES ss242687258 Jul 15, 2010 (132)
35 GMI ss281639164 May 04, 2012 (137)
36 PJP ss291557326 May 09, 2011 (134)
37 NHLBI-ESP ss342373173 May 09, 2011 (134)
38 ILLUMINA ss479296297 May 04, 2012 (137)
39 ILLUMINA ss479299474 May 04, 2012 (137)
40 ILLUMINA ss479680205 Sep 08, 2015 (146)
41 ILLUMINA ss484448576 May 04, 2012 (137)
42 1000GENOMES ss491056900 May 04, 2012 (137)
43 EXOME_CHIP ss491477102 May 04, 2012 (137)
44 CLINSEQ_SNP ss491677202 May 04, 2012 (137)
45 ILLUMINA ss536615762 Sep 08, 2015 (146)
46 TISHKOFF ss563550110 Apr 25, 2013 (138)
47 SSMP ss659144057 Apr 25, 2013 (138)
48 ILLUMINA ss778734515 Sep 08, 2015 (146)
49 ILLUMINA ss780695271 Sep 08, 2015 (146)
50 ILLUMINA ss782670821 Sep 08, 2015 (146)
51 ILLUMINA ss783369239 Sep 08, 2015 (146)
52 ILLUMINA ss783639534 Sep 08, 2015 (146)
53 ILLUMINA ss825671369 Apr 01, 2015 (144)
54 ILLUMINA ss831921483 Sep 08, 2015 (146)
55 ILLUMINA ss834194041 Sep 08, 2015 (146)
56 EVA-GONL ss990192723 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1067540181 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1078937671 Aug 21, 2014 (142)
59 1000GENOMES ss1347494790 Aug 21, 2014 (142)
60 HAMMER_LAB ss1397652018 Sep 08, 2015 (146)
61 DDI ss1427128212 Apr 01, 2015 (144)
62 EVA_GENOME_DK ss1576672649 Apr 01, 2015 (144)
63 EVA_FINRISK ss1584086110 Apr 01, 2015 (144)
64 EVA_UK10K_ALSPAC ss1629889895 Apr 01, 2015 (144)
65 EVA_UK10K_TWINSUK ss1672883928 Apr 01, 2015 (144)
66 EVA_EXAC ss1691227130 Apr 01, 2015 (144)
67 EVA_MGP ss1711352321 Apr 01, 2015 (144)
68 EVA_SVP ss1713375667 Apr 01, 2015 (144)
69 ILLUMINA ss1752097712 Sep 08, 2015 (146)
70 ILLUMINA ss1752097713 Sep 08, 2015 (146)
71 HAMMER_LAB ss1807525805 Sep 08, 2015 (146)
72 ILLUMINA ss1917881745 Feb 12, 2016 (147)
73 WEILL_CORNELL_DGM ss1933561056 Feb 12, 2016 (147)
74 ILLUMINA ss1946356368 Feb 12, 2016 (147)
75 ILLUMINA ss1959486998 Feb 12, 2016 (147)
76 GENOMED ss1967734434 Jul 19, 2016 (147)
77 JJLAB ss2027534940 Sep 14, 2016 (149)
78 USC_VALOUEV ss2155898749 Dec 20, 2016 (150)
79 TOPMED ss2358949551 Dec 20, 2016 (150)
80 ILLUMINA ss2633039375 Nov 08, 2017 (151)
81 ILLUMINA ss2635043314 Nov 08, 2017 (151)
82 GRF ss2700270212 Nov 08, 2017 (151)
83 GNOMAD ss2740317000 Nov 08, 2017 (151)
84 GNOMAD ss2749018522 Nov 08, 2017 (151)
85 GNOMAD ss2917598461 Nov 08, 2017 (151)
86 AFFY ss2984998910 Nov 08, 2017 (151)
87 SWEGEN ss3010720972 Nov 08, 2017 (151)
88 ILLUMINA ss3021491085 Nov 08, 2017 (151)
89 EVA_SAMSUNG_MC ss3023068181 Nov 08, 2017 (151)
90 BIOINF_KMB_FNS_UNIBA ss3027582197 Nov 08, 2017 (151)
91 TOPMED ss3187995598 Nov 08, 2017 (151)
92 CSHL ss3350364905 Nov 08, 2017 (151)
93 ILLUMINA ss3627021817 Oct 12, 2018 (152)
94 ILLUMINA ss3627021818 Oct 12, 2018 (152)
95 ILLUMINA ss3631043872 Oct 12, 2018 (152)
96 ILLUMINA ss3633042856 Oct 12, 2018 (152)
97 ILLUMINA ss3633744915 Oct 12, 2018 (152)
98 ILLUMINA ss3634535662 Oct 12, 2018 (152)
99 ILLUMINA ss3634535663 Oct 12, 2018 (152)
100 ILLUMINA ss3635435171 Oct 12, 2018 (152)
101 ILLUMINA ss3636222147 Oct 12, 2018 (152)
102 ILLUMINA ss3637186217 Oct 12, 2018 (152)
103 ILLUMINA ss3638000237 Oct 12, 2018 (152)
104 ILLUMINA ss3640242994 Oct 12, 2018 (152)
105 ILLUMINA ss3640242995 Oct 12, 2018 (152)
106 ILLUMINA ss3642990943 Oct 12, 2018 (152)
107 ILLUMINA ss3644609389 Oct 12, 2018 (152)
108 OMUKHERJEE_ADBS ss3646451542 Oct 12, 2018 (152)
109 ILLUMINA ss3651876030 Oct 12, 2018 (152)
110 ILLUMINA ss3653769262 Oct 12, 2018 (152)
111 EVA_DECODE ss3694925553 Jul 13, 2019 (153)
112 ILLUMINA ss3725378593 Jul 13, 2019 (153)
113 ACPOP ss3739582242 Jul 13, 2019 (153)
114 ILLUMINA ss3744404161 Jul 13, 2019 (153)
115 ILLUMINA ss3744836406 Jul 13, 2019 (153)
116 ILLUMINA ss3744836407 Jul 13, 2019 (153)
117 EVA ss3751235731 Jul 13, 2019 (153)
118 PAGE_CC ss3771734343 Jul 13, 2019 (153)
119 ILLUMINA ss3772335530 Jul 13, 2019 (153)
120 ILLUMINA ss3772335531 Jul 13, 2019 (153)
121 KHV_HUMAN_GENOMES ss3816566689 Jul 13, 2019 (153)
122 EVA ss3824796537 Apr 27, 2020 (154)
123 EVA ss3825529010 Apr 27, 2020 (154)
124 EVA ss3825544166 Apr 27, 2020 (154)
125 EVA ss3825834012 Apr 27, 2020 (154)
126 EVA ss3833448120 Apr 27, 2020 (154)
127 SGDP_PRJ ss3879593050 Apr 27, 2020 (154)
128 KRGDB ss3928409967 Apr 27, 2020 (154)
129 KOGIC ss3973207236 Apr 27, 2020 (154)
130 FSA-LAB ss3984043664 Apr 26, 2021 (155)
131 EVA ss3984677174 Apr 26, 2021 (155)
132 EVA ss3986062087 Apr 26, 2021 (155)
133 EVA ss3986596584 Apr 26, 2021 (155)
134 EVA ss4017622713 Apr 26, 2021 (155)
135 TOPMED ss4939948361 Apr 26, 2021 (155)
136 TOMMO_GENOMICS ss5209177016 Apr 26, 2021 (155)
137 EVA ss5236911757 Apr 26, 2021 (155)
138 1000Genomes NC_000013.10 - 25009297 Oct 12, 2018 (152)
139 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 25009297 Oct 12, 2018 (152)
140 Genome-wide autozygosity in Daghestan NC_000013.9 - 23907297 Apr 27, 2020 (154)
141 ExAC NC_000013.10 - 25009297 Oct 12, 2018 (152)
142 FINRISK NC_000013.10 - 25009297 Apr 27, 2020 (154)
143 The Danish reference pan genome NC_000013.10 - 25009297 Apr 27, 2020 (154)
144 gnomAD - Genomes NC_000013.11 - 24435159 Apr 26, 2021 (155)
145 gnomAD - Exomes NC_000013.10 - 25009297 Jul 13, 2019 (153)
146 GO Exome Sequencing Project NC_000013.10 - 25009297 Oct 12, 2018 (152)
147 Genome of the Netherlands Release 5 NC_000013.10 - 25009297 Apr 27, 2020 (154)
148 HapMap NC_000013.11 - 24435159 Apr 27, 2020 (154)
149 KOREAN population from KRGDB NC_000013.10 - 25009297 Apr 27, 2020 (154)
150 Korean Genome Project NC_000013.11 - 24435159 Apr 27, 2020 (154)
151 Medical Genome Project healthy controls from Spanish population NC_000013.10 - 25009297 Apr 27, 2020 (154)
152 Northern Sweden NC_000013.10 - 25009297 Jul 13, 2019 (153)
153 The PAGE Study NC_000013.11 - 24435159 Jul 13, 2019 (153)
154 CNV burdens in cranial meningiomas NC_000013.10 - 25009297 Apr 26, 2021 (155)
155 Qatari NC_000013.10 - 25009297 Apr 27, 2020 (154)
156 SGDP_PRJ NC_000013.10 - 25009297 Apr 27, 2020 (154)
157 Siberian NC_000013.10 - 25009297 Apr 27, 2020 (154)
158 8.3KJPN NC_000013.10 - 25009297 Apr 26, 2021 (155)
159 TopMed NC_000013.11 - 24435159 Apr 26, 2021 (155)
160 UK 10K study - Twins NC_000013.10 - 25009297 Oct 12, 2018 (152)
161 A Vietnamese Genetic Variation Database NC_000013.10 - 25009297 Jul 13, 2019 (153)
162 ALFA NC_000013.11 - 24435159 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)
rs3190396 Jul 03, 2002 (106)
rs3742175 Oct 09, 2002 (108)
rs58385276 May 24, 2008 (130)
rs116873771 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
122709, ss84775062, ss89535411, ss114417926, ss118388956, ss167713934, ss168970393, ss170881923, ss198972769, ss281639164, ss291557326, ss479296297, ss491677202, ss825671369, ss1397652018, ss1713375667, ss2635043314, ss3642990943 NC_000013.9:23907296:G:T NC_000013.11:24435158:G:T (self)
60338178, 33509277, 1550715, 82571, 3220008, 9558435, 1253930, 14950277, 35587361, 468081, 12867107, 226673, 15602986, 31610030, 8415103, 67146323, 33509277, 7433047, ss226080190, ss236176501, ss242687258, ss342373173, ss479299474, ss479680205, ss484448576, ss491056900, ss491477102, ss536615762, ss563550110, ss659144057, ss778734515, ss780695271, ss782670821, ss783369239, ss783639534, ss831921483, ss834194041, ss990192723, ss1067540181, ss1078937671, ss1347494790, ss1427128212, ss1576672649, ss1584086110, ss1629889895, ss1672883928, ss1691227130, ss1711352321, ss1752097712, ss1752097713, ss1807525805, ss1917881745, ss1933561056, ss1946356368, ss1959486998, ss1967734434, ss2027534940, ss2155898749, ss2358949551, ss2633039375, ss2700270212, ss2740317000, ss2749018522, ss2917598461, ss2984998910, ss3010720972, ss3021491085, ss3023068181, ss3350364905, ss3627021817, ss3627021818, ss3631043872, ss3633042856, ss3633744915, ss3634535662, ss3634535663, ss3635435171, ss3636222147, ss3637186217, ss3638000237, ss3640242994, ss3640242995, ss3644609389, ss3646451542, ss3651876030, ss3653769262, ss3739582242, ss3744404161, ss3744836406, ss3744836407, ss3751235731, ss3772335530, ss3772335531, ss3824796537, ss3825529010, ss3825544166, ss3825834012, ss3833448120, ss3879593050, ss3928409967, ss3984043664, ss3984677174, ss3986062087, ss3986596584, ss4017622713, ss5209177016 NC_000013.10:25009296:G:T NC_000013.11:24435158:G:T (self)
425509893, 948092, 29585237, 955812, 97231671, 155494019, 8590748865, ss3027582197, ss3187995598, ss3694925553, ss3725378593, ss3771734343, ss3816566689, ss3973207236, ss4939948361, ss5236911757 NC_000013.11:24435158:G:T NC_000013.11:24435158:G:T (self)
ss12259153, ss13160221 NT_009799.12:5989296:G:T NC_000013.11:24435158:G:T (self)
ss17496784, ss76896723 NT_024524.13:5989296:G:T NC_000013.11:24435158:G:T (self)
ss1524439, ss4415330, ss4928181, ss5586216, ss16262970, ss43472112, ss69128241, ss75304935, ss86272099, ss119380345, ss123397467, ss133485240, ss152761938, ss154535295, ss159727865, ss159903581, ss161582234, ss169474844, ss170239748 NT_024524.14:5989296:G:T NC_000013.11:24435158:G:T (self)
Help

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

1 citation for rs1050112
PMID Title Author Year Journal
22701660 Association of polymorphisms in oxidative stress genes with clinical outcomes for bladder cancer treated with Bacillus Calmette-Guérin. Wei H et al. 2012 PloS one
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