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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.

rs1050107

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:24459089 (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
A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.111789 (36581/327234, ALFA)
G=0.116332 (30792/264690, TOPMED)
G=0.094525 (23610/249776, GnomAD_exome) (+ 25 more)
G=0.122231 (17137/140202, GnomAD)
G=0.098516 (11818/119960, ExAC)
G=0.10014 (7871/78600, PAGE_STUDY)
G=0.00638 (107/16760, 8.3KJPN)
G=0.13075 (1700/13002, GO-ESP)
G=0.0903 (452/5008, 1000G)
G=0.1261 (565/4480, Estonian)
G=0.1318 (508/3854, ALSPAC)
G=0.1195 (443/3708, TWINSUK)
G=0.0116 (34/2930, KOREAN)
G=0.0830 (173/2084, HGDP_Stanford)
G=0.0988 (187/1892, HapMap)
G=0.0131 (24/1832, Korea1K)
G=0.108 (108/998, GoNL)
G=0.020 (16/792, PRJEB37584)
G=0.034 (21/614, Vietnamese)
G=0.130 (78/600, NorthernSweden)
G=0.103 (55/534, MGP)
G=0.115 (35/304, FINRISK)
G=0.125 (27/216, Qatari)
A=0.500 (51/102, SGDP_PRJ)
G=0.500 (51/102, SGDP_PRJ)
G=0.08 (4/50, Ancient Sardinia)
G=0.17 (7/40, GENOME_DK)
A=0.45 (9/20, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARP4 : Synonymous Variant
Publications
0 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 13 NC_000013.11:g.24459089A>G
GRCh37.p13 chr 13 NC_000013.10:g.25033227A>G
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.2379T>C Y [TAT] > Y [TAC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 NP_006428.2:p.Tyr793= Y (Tyr) > Y (Tyr) Synonymous Variant
PARP4 transcript variant X1 XM_011534931.1:c.2520T>C Y [TAT] > Y [TAC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 isoform X1 XP_011533233.1:p.Tyr840= Y (Tyr) > Y (Tyr) Synonymous Variant
PARP4 transcript variant X2 XM_011534932.2:c.2379T>C Y [TAT] > Y [TAC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 isoform X2 XP_011533234.1:p.Tyr793= Y (Tyr) > Y (Tyr) Synonymous Variant
PARP4 transcript variant X3 XR_941496.1:n.2535T>C 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 327234 A=0.888211 G=0.111789
European Sub 285176 A=0.885330 G=0.114670
African Sub 9004 A=0.8526 G=0.1474
African Others Sub 326 A=0.822 G=0.178
African American Sub 8678 A=0.8538 G=0.1462
Asian Sub 3952 A=0.9856 G=0.0144
East Asian Sub 3176 A=0.9865 G=0.0135
Other Asian Sub 776 A=0.982 G=0.018
Latin American 1 Sub 1486 A=0.8829 G=0.1171
Latin American 2 Sub 7184 A=0.9440 G=0.0560
South Asian Sub 5224 A=0.9273 G=0.0727
Other Sub 15208 A=0.89874 G=0.10126


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
Allele Frequency Aggregator Total Global 327234 A=0.888211 G=0.111789
Allele Frequency Aggregator European Sub 285176 A=0.885330 G=0.114670
Allele Frequency Aggregator Other Sub 15208 A=0.89874 G=0.10126
Allele Frequency Aggregator African Sub 9004 A=0.8526 G=0.1474
Allele Frequency Aggregator Latin American 2 Sub 7184 A=0.9440 G=0.0560
Allele Frequency Aggregator South Asian Sub 5224 A=0.9273 G=0.0727
Allele Frequency Aggregator Asian Sub 3952 A=0.9856 G=0.0144
Allele Frequency Aggregator Latin American 1 Sub 1486 A=0.8829 G=0.1171
TopMed Global Study-wide 264690 A=0.883668 G=0.116332
gnomAD - Exomes Global Study-wide 249776 A=0.905475 G=0.094525
gnomAD - Exomes European Sub 134602 A=0.883479 G=0.116521
gnomAD - Exomes Asian Sub 48696 A=0.94903 G=0.05097
gnomAD - Exomes American Sub 34248 A=0.94969 G=0.05031
gnomAD - Exomes African Sub 16096 A=0.84238 G=0.15762
gnomAD - Exomes Ashkenazi Jewish Sub 10044 A=0.94484 G=0.05516
gnomAD - Exomes Other Sub 6090 A=0.8966 G=0.1034
gnomAD - Genomes Global Study-wide 140202 A=0.877769 G=0.122231
gnomAD - Genomes European Sub 75916 A=0.88103 G=0.11897
gnomAD - Genomes African Sub 42024 A=0.84654 G=0.15346
gnomAD - Genomes American Sub 13652 A=0.91335 G=0.08665
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.9458 G=0.0542
gnomAD - Genomes East Asian Sub 3134 A=0.9796 G=0.0204
gnomAD - Genomes Other Sub 2152 A=0.8936 G=0.1064
ExAC Global Study-wide 119960 A=0.901484 G=0.098516
ExAC Europe Sub 72594 A=0.88675 G=0.11325
ExAC Asian Sub 24920 A=0.94848 G=0.05152
ExAC American Sub 11468 A=0.95030 G=0.04970
ExAC African Sub 10084 A=0.83558 G=0.16442
ExAC Other Sub 894 A=0.905 G=0.095
The PAGE Study Global Study-wide 78600 A=0.89986 G=0.10014
The PAGE Study AfricanAmerican Sub 32428 A=0.84957 G=0.15043
The PAGE Study Mexican Sub 10806 A=0.94596 G=0.05404
The PAGE Study Asian Sub 8316 A=0.9911 G=0.0089
The PAGE Study PuertoRican Sub 7918 A=0.8967 G=0.1033
The PAGE Study NativeHawaiian Sub 4532 A=0.9634 G=0.0366
The PAGE Study Cuban Sub 4230 A=0.9024 G=0.0976
The PAGE Study Dominican Sub 3824 A=0.8766 G=0.1234
The PAGE Study CentralAmerican Sub 2450 A=0.9322 G=0.0678
The PAGE Study SouthAmerican Sub 1980 A=0.9460 G=0.0540
The PAGE Study NativeAmerican Sub 1260 A=0.8968 G=0.1032
The PAGE Study SouthAsian Sub 856 A=0.926 G=0.074
8.3KJPN JAPANESE Study-wide 16760 A=0.99362 G=0.00638
GO Exome Sequencing Project Global Study-wide 13002 A=0.86925 G=0.13075
GO Exome Sequencing Project European American Sub 8600 A=0.8843 G=0.1157
GO Exome Sequencing Project African American Sub 4402 A=0.8398 G=0.1602
1000Genomes Global Study-wide 5008 A=0.9097 G=0.0903
1000Genomes African Sub 1322 A=0.8313 G=0.1687
1000Genomes East Asian Sub 1008 A=0.9683 G=0.0317
1000Genomes Europe Sub 1006 A=0.9066 G=0.0934
1000Genomes South Asian Sub 978 A=0.946 G=0.054
1000Genomes American Sub 694 A=0.928 G=0.072
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.8739 G=0.1261
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.8682 G=0.1318
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.8805 G=0.1195
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.9884 G=0.0116
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.9170 G=0.0830
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.977 G=0.023
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.918 G=0.082
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.891 G=0.109
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.847 G=0.153
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.831 G=0.169
HGDP-CEPH-db Supplement 1 America Sub 216 A=1.000 G=0.000
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=1.00 G=0.00
HapMap Global Study-wide 1892 A=0.9012 G=0.0988
HapMap American Sub 770 A=0.918 G=0.082
HapMap African Sub 692 A=0.851 G=0.149
HapMap Asian Sub 254 A=0.988 G=0.012
HapMap Europe Sub 176 A=0.898 G=0.102
Korean Genome Project KOREAN Study-wide 1832 A=0.9869 G=0.0131
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.892 G=0.108
CNV burdens in cranial meningiomas Global Study-wide 792 A=0.980 G=0.020
CNV burdens in cranial meningiomas CRM Sub 792 A=0.980 G=0.020
A Vietnamese Genetic Variation Database Global Study-wide 614 A=0.966 G=0.034
Northern Sweden ACPOP Study-wide 600 A=0.870 G=0.130
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.897 G=0.103
FINRISK Finnish from FINRISK project Study-wide 304 A=0.885 G=0.115
Qatari Global Study-wide 216 A=0.875 G=0.125
SGDP_PRJ Global Study-wide 102 A=0.500 G=0.500
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 50 A=0.92 G=0.08
The Danish reference pan genome Danish Study-wide 40 A=0.82 G=0.17
Siberian Global Study-wide 20 A=0.45 G=0.55
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 A= G
GRCh38.p13 chr 13 NC_000013.11:g.24459089= NC_000013.11:g.24459089A>G
GRCh37.p13 chr 13 NC_000013.10:g.25033227= NC_000013.10:g.25033227A>G
PARP4 transcript NM_006437.4:c.2379= NM_006437.4:c.2379T>C
PARP4 transcript NM_006437.3:c.2379= NM_006437.3:c.2379T>C
PARP4 transcript variant X2 XM_011534932.2:c.2379= XM_011534932.2:c.2379T>C
PARP4 transcript variant X3 XR_941496.1:n.2535= XR_941496.1:n.2535T>C
PARP4 transcript variant X1 XM_011534931.1:c.2520= XM_011534931.1:c.2520T>C
protein mono-ADP-ribosyltransferase PARP4 NP_006428.2:p.Tyr793= NP_006428.2:p.Tyr793=
protein mono-ADP-ribosyltransferase PARP4 isoform X2 XP_011533234.1:p.Tyr793= XP_011533234.1:p.Tyr793=
protein mono-ADP-ribosyltransferase PARP4 isoform X1 XP_011533233.1:p.Tyr840= XP_011533233.1:p.Tyr840=
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#.

123 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss5586209 Mar 31, 2003 (113)
2 SC_SNP ss13307182 Dec 05, 2003 (119)
3 PERLEGEN ss23434445 Sep 20, 2004 (123)
4 ILLUMINA ss66889818 Nov 29, 2006 (127)
5 ILLUMINA ss66992098 Nov 29, 2006 (127)
6 ILLUMINA ss68086130 Dec 12, 2006 (127)
7 ILLUMINA ss70485726 May 23, 2008 (130)
8 ILLUMINA ss71009878 May 16, 2007 (127)
9 ILLUMINA ss75753348 Dec 07, 2007 (129)
10 KRIBB_YJKIM ss83673892 Dec 14, 2007 (130)
11 CORNELL ss86272103 Mar 23, 2008 (129)
12 1000GENOMES ss114418768 Jan 25, 2009 (130)
13 ILLUMINA ss152761873 Dec 01, 2009 (131)
14 ILLUMINA ss159130650 Dec 01, 2009 (131)
15 SEATTLESEQ ss159727884 Dec 01, 2009 (131)
16 ILLUMINA ss159903563 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss168972302 Jul 04, 2010 (132)
18 ILLUMINA ss170239447 Jul 04, 2010 (132)
19 BUSHMAN ss198973420 Jul 04, 2010 (132)
20 1000GENOMES ss210834589 Jul 14, 2010 (132)
21 1000GENOMES ss226080377 Jul 14, 2010 (132)
22 1000GENOMES ss236176668 Jul 15, 2010 (132)
23 BL ss254854112 May 09, 2011 (134)
24 GMI ss286668404 Apr 25, 2013 (138)
25 NHLBI-ESP ss342373226 May 09, 2011 (134)
26 ILLUMINA ss479296253 May 04, 2012 (137)
27 ILLUMINA ss479299431 May 04, 2012 (137)
28 ILLUMINA ss479680135 Sep 08, 2015 (146)
29 ILLUMINA ss484448555 May 04, 2012 (137)
30 1000GENOMES ss491056947 May 04, 2012 (137)
31 CLINSEQ_SNP ss491677240 May 04, 2012 (137)
32 ILLUMINA ss536615745 Sep 08, 2015 (146)
33 TISHKOFF ss563550315 Apr 25, 2013 (138)
34 SSMP ss659144297 Apr 25, 2013 (138)
35 ILLUMINA ss778734509 Sep 08, 2015 (146)
36 ILLUMINA ss782670810 Sep 08, 2015 (146)
37 ILLUMINA ss783639523 Sep 08, 2015 (146)
38 ILLUMINA ss831921472 Sep 08, 2015 (146)
39 ILLUMINA ss832643338 Jul 13, 2019 (153)
40 ILLUMINA ss834194035 Sep 08, 2015 (146)
41 JMKIDD_LAB ss974486232 Aug 21, 2014 (142)
42 EVA-GONL ss990193028 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1067540209 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1078937866 Aug 21, 2014 (142)
45 1000GENOMES ss1347495620 Aug 21, 2014 (142)
46 EVA_GENOME_DK ss1576672816 Apr 01, 2015 (144)
47 EVA_FINRISK ss1584086127 Apr 01, 2015 (144)
48 EVA_UK10K_ALSPAC ss1629890267 Apr 01, 2015 (144)
49 EVA_DECODE ss1642298484 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1672884300 Apr 01, 2015 (144)
51 EVA_EXAC ss1691227690 Apr 01, 2015 (144)
52 EVA_MGP ss1711352391 Apr 01, 2015 (144)
53 EVA_SVP ss1713375683 Apr 01, 2015 (144)
54 ILLUMINA ss1752097737 Sep 08, 2015 (146)
55 HAMMER_LAB ss1807525993 Sep 08, 2015 (146)
56 WEILL_CORNELL_DGM ss1933561393 Feb 12, 2016 (147)
57 ILLUMINA ss1946356394 Feb 12, 2016 (147)
58 ILLUMINA ss1959487058 Feb 12, 2016 (147)
59 JJLAB ss2027535095 Sep 14, 2016 (149)
60 USC_VALOUEV ss2155898950 Dec 20, 2016 (150)
61 HUMAN_LONGEVITY ss2194862420 Dec 20, 2016 (150)
62 TOPMED ss2358951034 Dec 20, 2016 (150)
63 ILLUMINA ss2633039404 Nov 08, 2017 (151)
64 ILLUMINA ss2710661718 Nov 08, 2017 (151)
65 GNOMAD ss2740317770 Nov 08, 2017 (151)
66 GNOMAD ss2749018796 Nov 08, 2017 (151)
67 GNOMAD ss2917600794 Nov 08, 2017 (151)
68 SWEGEN ss3010721454 Nov 08, 2017 (151)
69 ILLUMINA ss3021491148 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3027582317 Nov 08, 2017 (151)
71 TOPMED ss3188000426 Nov 08, 2017 (151)
72 CSHL ss3350365096 Nov 08, 2017 (151)
73 ILLUMINA ss3625639923 Oct 12, 2018 (152)
74 ILLUMINA ss3627021893 Oct 12, 2018 (152)
75 ILLUMINA ss3631043900 Oct 12, 2018 (152)
76 ILLUMINA ss3633042862 Oct 12, 2018 (152)
77 ILLUMINA ss3633744922 Oct 12, 2018 (152)
78 ILLUMINA ss3634535687 Oct 12, 2018 (152)
79 ILLUMINA ss3635435177 Oct 12, 2018 (152)
80 ILLUMINA ss3636222161 Oct 12, 2018 (152)
81 ILLUMINA ss3637186223 Oct 12, 2018 (152)
82 ILLUMINA ss3638000248 Oct 12, 2018 (152)
83 ILLUMINA ss3639013002 Oct 12, 2018 (152)
84 ILLUMINA ss3639816537 Oct 12, 2018 (152)
85 ILLUMINA ss3640243019 Oct 12, 2018 (152)
86 ILLUMINA ss3641039153 Oct 12, 2018 (152)
87 ILLUMINA ss3641334026 Oct 12, 2018 (152)
88 ILLUMINA ss3642990953 Oct 12, 2018 (152)
89 ILLUMINA ss3643867664 Oct 12, 2018 (152)
90 ILLUMINA ss3644609414 Oct 12, 2018 (152)
91 OMUKHERJEE_ADBS ss3646451582 Oct 12, 2018 (152)
92 ILLUMINA ss3651876094 Oct 12, 2018 (152)
93 EGCUT_WGS ss3677985756 Jul 13, 2019 (153)
94 EVA_DECODE ss3694926052 Jul 13, 2019 (153)
95 ILLUMINA ss3725378632 Jul 13, 2019 (153)
96 ACPOP ss3739582498 Jul 13, 2019 (153)
97 ILLUMINA ss3744108798 Jul 13, 2019 (153)
98 ILLUMINA ss3744836431 Jul 13, 2019 (153)
99 EVA ss3751236042 Jul 13, 2019 (153)
100 PAGE_CC ss3771734371 Jul 13, 2019 (153)
101 ILLUMINA ss3772335555 Jul 13, 2019 (153)
102 PACBIO ss3787404019 Jul 13, 2019 (153)
103 PACBIO ss3792477940 Jul 13, 2019 (153)
104 PACBIO ss3797361647 Jul 13, 2019 (153)
105 KHV_HUMAN_GENOMES ss3816567033 Jul 13, 2019 (153)
106 EVA ss3824796676 Apr 27, 2020 (154)
107 EVA ss3825834043 Apr 27, 2020 (154)
108 EVA ss3833448305 Apr 27, 2020 (154)
109 EVA ss3840299979 Apr 27, 2020 (154)
110 EVA ss3845784449 Apr 27, 2020 (154)
111 HGDP ss3847471903 Apr 27, 2020 (154)
112 SGDP_PRJ ss3879593615 Apr 27, 2020 (154)
113 KRGDB ss3928410551 Apr 27, 2020 (154)
114 KOGIC ss3973207710 Apr 27, 2020 (154)
115 FSA-LAB ss3984043726 Apr 26, 2021 (155)
116 EVA ss3984677183 Apr 26, 2021 (155)
117 EVA ss3985628817 Apr 26, 2021 (155)
118 EVA ss3986596678 Apr 26, 2021 (155)
119 EVA ss4017622723 Apr 26, 2021 (155)
120 TOPMED ss4939954306 Apr 26, 2021 (155)
121 TOMMO_GENOMICS ss5209178049 Apr 26, 2021 (155)
122 EVA ss5236911773 Apr 26, 2021 (155)
123 EVA ss5237523098 Apr 26, 2021 (155)
124 1000Genomes NC_000013.10 - 25033227 Oct 12, 2018 (152)
125 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 25033227 Oct 12, 2018 (152)
126 Genetic variation in the Estonian population NC_000013.10 - 25033227 Oct 12, 2018 (152)
127 ExAC NC_000013.10 - 25033227 Oct 12, 2018 (152)
128 FINRISK NC_000013.10 - 25033227 Apr 27, 2020 (154)
129 The Danish reference pan genome NC_000013.10 - 25033227 Apr 27, 2020 (154)
130 gnomAD - Genomes NC_000013.11 - 24459089 Apr 26, 2021 (155)
131 gnomAD - Exomes NC_000013.10 - 25033227 Jul 13, 2019 (153)
132 GO Exome Sequencing Project NC_000013.10 - 25033227 Oct 12, 2018 (152)
133 Genome of the Netherlands Release 5 NC_000013.10 - 25033227 Apr 27, 2020 (154)
134 HGDP-CEPH-db Supplement 1 NC_000013.9 - 23931227 Apr 27, 2020 (154)
135 HapMap NC_000013.11 - 24459089 Apr 27, 2020 (154)
136 KOREAN population from KRGDB NC_000013.10 - 25033227 Apr 27, 2020 (154)
137 Korean Genome Project NC_000013.11 - 24459089 Apr 27, 2020 (154)
138 Medical Genome Project healthy controls from Spanish population NC_000013.10 - 25033227 Apr 27, 2020 (154)
139 Northern Sweden NC_000013.10 - 25033227 Jul 13, 2019 (153)
140 The PAGE Study NC_000013.11 - 24459089 Jul 13, 2019 (153)
141 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000013.10 - 25033227 Apr 26, 2021 (155)
142 CNV burdens in cranial meningiomas NC_000013.10 - 25033227 Apr 26, 2021 (155)
143 Qatari NC_000013.10 - 25033227 Apr 27, 2020 (154)
144 SGDP_PRJ NC_000013.10 - 25033227 Apr 27, 2020 (154)
145 Siberian NC_000013.10 - 25033227 Apr 27, 2020 (154)
146 8.3KJPN NC_000013.10 - 25033227 Apr 26, 2021 (155)
147 TopMed NC_000013.11 - 24459089 Apr 26, 2021 (155)
148 UK 10K study - Twins NC_000013.10 - 25033227 Oct 12, 2018 (152)
149 A Vietnamese Genetic Variation Database NC_000013.10 - 25033227 Jul 13, 2019 (153)
150 ALFA NC_000013.11 - 24459089 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)
rs3190388 Jul 03, 2002 (106)
rs17416722 Mar 10, 2006 (126)
rs56666005 May 23, 2008 (130)
rs117264366 Aug 16, 2010 (132)
rs386513816 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
149795, ss114418768, ss168972302, ss198973420, ss210834589, ss254854112, ss286668404, ss479296253, ss491677240, ss1642298484, ss1713375683, ss2710661718, ss3639013002, ss3639816537, ss3642990953, ss3643867664, ss3847471903 NC_000013.9:23931226:A:G NC_000013.11:24459088:A:G (self)
60339047, 33509713, 23724004, 1551322, 82588, 3220130, 9559209, 1254069, 14950578, 35587945, 468151, 12867363, 854744, 226682, 15603323, 31610595, 8415304, 67147356, 33509713, 7433170, ss226080377, ss236176668, ss342373226, ss479299431, ss479680135, ss484448555, ss491056947, ss536615745, ss563550315, ss659144297, ss778734509, ss782670810, ss783639523, ss831921472, ss832643338, ss834194035, ss974486232, ss990193028, ss1067540209, ss1078937866, ss1347495620, ss1576672816, ss1584086127, ss1629890267, ss1672884300, ss1691227690, ss1711352391, ss1752097737, ss1807525993, ss1933561393, ss1946356394, ss1959487058, ss2027535095, ss2155898950, ss2358951034, ss2633039404, ss2740317770, ss2749018796, ss2917600794, ss3010721454, ss3021491148, ss3350365096, ss3625639923, ss3627021893, ss3631043900, ss3633042862, ss3633744922, ss3634535687, ss3635435177, ss3636222161, ss3637186223, ss3638000248, ss3640243019, ss3641039153, ss3641334026, ss3644609414, ss3646451582, ss3651876094, ss3677985756, ss3739582498, ss3744108798, ss3744836431, ss3751236042, ss3772335555, ss3787404019, ss3792477940, ss3797361647, ss3824796676, ss3825834043, ss3833448305, ss3840299979, ss3879593615, ss3928410551, ss3984043726, ss3984677183, ss3985628817, ss3986596678, ss4017622723, ss5209178049, ss5237523098 NC_000013.10:25033226:A:G NC_000013.11:24459088:A:G (self)
425515109, 948139, 29585711, 955840, 97235353, 155499964, 249547133, ss2194862420, ss3027582317, ss3188000426, ss3694926052, ss3725378632, ss3771734371, ss3816567033, ss3845784449, ss3973207710, ss4939954306, ss5236911773 NC_000013.11:24459088:A:G NC_000013.11:24459088:A:G (self)
ss13307182 NT_009799.12:6013226:A:G NC_000013.11:24459088:A:G (self)
ss5586209, ss23434445, ss66889818, ss66992098, ss68086130, ss70485726, ss71009878, ss75753348, ss83673892, ss86272103, ss152761873, ss159130650, ss159727884, ss159903563, ss170239447 NT_024524.14:6013226:A:G NC_000013.11:24459088:A:G (self)
Help

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

No publications for rs1050107

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