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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.

rs1050114

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:24435150 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.012612 (3473/275366, ALFA)
T=0.056647 (14994/264690, TOPMED)
T=0.016225 (4079/251402, GnomAD_exome) (+ 15 more)
T=0.054641 (7657/140132, GnomAD)
T=0.019720 (2394/121400, ExAC)
T=0.07891 (6210/78698, PAGE_STUDY)
T=0.05974 (777/13006, GO-ESP)
T=0.0565 (283/5008, 1000G)
T=0.0078 (30/3854, ALSPAC)
T=0.0057 (21/3708, TWINSUK)
T=0.0996 (137/1376, HapMap)
T=0.0062 (7/1136, Daghestan)
T=0.005 (5/998, GoNL)
T=0.013 (8/600, NorthernSweden)
T=0.006 (3/534, MGP)
T=0.013 (4/304, FINRISK)
T=0.042 (9/216, Qatari)
C=0.47 (16/34, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PARP4 : Missense 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.24435150C>T
GRCh37.p13 chr 13 NC_000013.10:g.25009288C>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.3991G>A A [GCC] > T [ACC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 NP_006428.2:p.Ala1331Thr A (Ala) > T (Thr) Missense Variant
PARP4 transcript variant X1 XM_011534931.1:c.4132G>A A [GCC] > T [ACC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 isoform X1 XP_011533233.1:p.Ala1378T…

XP_011533233.1:p.Ala1378Thr

A (Ala) > T (Thr) Missense Variant
PARP4 transcript variant X2 XM_011534932.2:c.3991G>A A [GCC] > T [ACC] Coding Sequence Variant
protein mono-ADP-ribosyltransferase PARP4 isoform X2 XP_011533234.1:p.Ala1331T…

XP_011533234.1:p.Ala1331Thr

A (Ala) > T (Thr) Missense Variant
PARP4 transcript variant X3 XR_941496.1:n.4147G>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 275366 C=0.987388 T=0.012612
European Sub 228494 C=0.993899 T=0.006101
African Sub 10948 C=0.84636 T=0.15364
African Others Sub 380 C=0.821 T=0.179
African American Sub 10568 C=0.84727 T=0.15273
Asian Sub 6576 C=1.0000 T=0.0000
East Asian Sub 4656 C=1.0000 T=0.0000
Other Asian Sub 1920 C=1.0000 T=0.0000
Latin American 1 Sub 1360 C=0.9434 T=0.0566
Latin American 2 Sub 6448 C=0.9885 T=0.0115
South Asian Sub 350 C=0.997 T=0.003
Other Sub 21190 C=0.98844 T=0.01156


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 275366 C=0.987388 T=0.012612
Allele Frequency Aggregator European Sub 228494 C=0.993899 T=0.006101
Allele Frequency Aggregator Other Sub 21190 C=0.98844 T=0.01156
Allele Frequency Aggregator African Sub 10948 C=0.84636 T=0.15364
Allele Frequency Aggregator Asian Sub 6576 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6448 C=0.9885 T=0.0115
Allele Frequency Aggregator Latin American 1 Sub 1360 C=0.9434 T=0.0566
Allele Frequency Aggregator South Asian Sub 350 C=0.997 T=0.003
TopMed Global Study-wide 264690 C=0.943353 T=0.056647
gnomAD - Exomes Global Study-wide 251402 C=0.983775 T=0.016225
gnomAD - Exomes European Sub 135346 C=0.993772 T=0.006228
gnomAD - Exomes Asian Sub 49004 C=0.99798 T=0.00202
gnomAD - Exomes American Sub 34588 C=0.98953 T=0.01047
gnomAD - Exomes African Sub 16254 C=0.83549 T=0.16451
gnomAD - Exomes Ashkenazi Jewish Sub 10074 C=0.99692 T=0.00308
gnomAD - Exomes Other Sub 6136 C=0.9886 T=0.0114
gnomAD - Genomes Global Study-wide 140132 C=0.945359 T=0.054641
gnomAD - Genomes European Sub 75942 C=0.99327 T=0.00673
gnomAD - Genomes African Sub 41942 C=0.83873 T=0.16127
gnomAD - Genomes American Sub 13640 C=0.98079 T=0.01921
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9967 T=0.0033
gnomAD - Genomes East Asian Sub 3134 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2150 C=0.9493 T=0.0507
ExAC Global Study-wide 121400 C=0.980280 T=0.019720
ExAC Europe Sub 73348 C=0.99359 T=0.00641
ExAC Asian Sub 25162 C=0.99785 T=0.00215
ExAC American Sub 11576 C=0.99076 T=0.00924
ExAC African Sub 10406 C=0.83144 T=0.16856
ExAC Other Sub 908 C=0.990 T=0.010
The PAGE Study Global Study-wide 78698 C=0.92109 T=0.07891
The PAGE Study AfricanAmerican Sub 32512 C=0.84587 T=0.15413
The PAGE Study Mexican Sub 10810 C=0.98881 T=0.01119
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9454 T=0.0546
The PAGE Study NativeHawaiian Sub 4534 C=0.9971 T=0.0029
The PAGE Study Cuban Sub 4230 C=0.9648 T=0.0352
The PAGE Study Dominican Sub 3828 C=0.9107 T=0.0893
The PAGE Study CentralAmerican Sub 2450 C=0.9694 T=0.0306
The PAGE Study SouthAmerican Sub 1982 C=0.9828 T=0.0172
The PAGE Study NativeAmerican Sub 1260 C=0.9770 T=0.0230
The PAGE Study SouthAsian Sub 856 C=0.995 T=0.005
GO Exome Sequencing Project Global Study-wide 13006 C=0.94026 T=0.05974
GO Exome Sequencing Project European American Sub 8600 C=0.9933 T=0.0067
GO Exome Sequencing Project African American Sub 4406 C=0.8368 T=0.1632
1000Genomes Global Study-wide 5008 C=0.9435 T=0.0565
1000Genomes African Sub 1322 C=0.8041 T=0.1959
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9911 T=0.0089
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.978 T=0.022
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9922 T=0.0078
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9943 T=0.0057
HapMap Global Study-wide 1376 C=0.9004 T=0.0996
HapMap African Sub 692 C=0.824 T=0.176
HapMap American Sub 422 C=0.967 T=0.033
HapMap Europe Sub 176 C=0.994 T=0.006
HapMap Asian Sub 86 C=1.00 T=0.00
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.9938 T=0.0062
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.995 T=0.005
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.986 T=0.014
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.992 T=0.008
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.991 T=0.009
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=1.00 T=0.00
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=1.00 T=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.995 T=0.005
Northern Sweden ACPOP Study-wide 600 C=0.987 T=0.013
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.994 T=0.006
FINRISK Finnish from FINRISK project Study-wide 304 C=0.987 T=0.013
Qatari Global Study-wide 216 C=0.958 T=0.042
SGDP_PRJ Global Study-wide 34 C=0.47 T=0.53
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.p13 chr 13 NC_000013.11:g.24435150= NC_000013.11:g.24435150C>T
GRCh37.p13 chr 13 NC_000013.10:g.25009288= NC_000013.10:g.25009288C>T
PARP4 transcript NM_006437.4:c.3991= NM_006437.4:c.3991G>A
PARP4 transcript NM_006437.3:c.3991= NM_006437.3:c.3991G>A
PARP4 transcript variant X2 XM_011534932.2:c.3991= XM_011534932.2:c.3991G>A
PARP4 transcript variant X3 XR_941496.1:n.4147= XR_941496.1:n.4147G>A
PARP4 transcript variant X1 XM_011534931.1:c.4132= XM_011534931.1:c.4132G>A
protein mono-ADP-ribosyltransferase PARP4 NP_006428.2:p.Ala1331= NP_006428.2:p.Ala1331Thr
protein mono-ADP-ribosyltransferase PARP4 isoform X2 XP_011533234.1:p.Ala1331= XP_011533234.1:p.Ala1331Thr
protein mono-ADP-ribosyltransferase PARP4 isoform X1 XP_011533233.1:p.Ala1378= XP_011533233.1:p.Ala1378Thr
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#.

102 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 LEE ss1524441 Oct 05, 2000 (86)
2 LEE ss4415332 May 29, 2002 (106)
3 SNP500CANCER ss5586217 Mar 31, 2003 (113)
4 PERLEGEN ss69128240 May 17, 2007 (127)
5 AFFY ss74814734 Aug 16, 2007 (128)
6 ILLUMINA ss74899393 Dec 07, 2007 (129)
7 HGSV ss85706705 Dec 15, 2007 (130)
8 CORNELL ss86272098 Mar 23, 2008 (129)
9 1000GENOMES ss114417913 Jan 25, 2009 (130)
10 SEATTLESEQ ss159727864 Dec 01, 2009 (131)
11 ILLUMINA ss159903588 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss168970378 Jul 04, 2010 (132)
13 ILLUMINA ss170239830 Jul 04, 2010 (132)
14 BUSHMAN ss198972765 Jul 04, 2010 (132)
15 1000GENOMES ss226080189 Jul 14, 2010 (132)
16 1000GENOMES ss236176500 Jul 15, 2010 (132)
17 NHLBI-ESP ss342373171 May 09, 2011 (134)
18 ILLUMINA ss479296317 May 04, 2012 (137)
19 ILLUMINA ss479299494 May 04, 2012 (137)
20 ILLUMINA ss479680233 Sep 08, 2015 (146)
21 ILLUMINA ss484448587 May 04, 2012 (137)
22 1000GENOMES ss491056899 May 04, 2012 (137)
23 EXOME_CHIP ss491477101 May 04, 2012 (137)
24 CLINSEQ_SNP ss491677201 May 04, 2012 (137)
25 ILLUMINA ss536615767 Sep 08, 2015 (146)
26 TISHKOFF ss563550109 Apr 25, 2013 (138)
27 ILLUMINA ss778359099 Aug 21, 2014 (142)
28 ILLUMINA ss780695270 Sep 08, 2015 (146)
29 ILLUMINA ss782670826 Aug 21, 2014 (142)
30 ILLUMINA ss783369238 Sep 08, 2015 (146)
31 ILLUMINA ss783639539 Aug 21, 2014 (142)
32 ILLUMINA ss831921488 Apr 01, 2015 (144)
33 ILLUMINA ss833813868 Aug 21, 2014 (142)
34 EVA-GONL ss990192722 Aug 21, 2014 (142)
35 JMKIDD_LAB ss1067540180 Aug 21, 2014 (142)
36 JMKIDD_LAB ss1078937670 Aug 21, 2014 (142)
37 1000GENOMES ss1347494789 Aug 21, 2014 (142)
38 HAMMER_LAB ss1397652017 Sep 08, 2015 (146)
39 EVA_FINRISK ss1584086109 Apr 01, 2015 (144)
40 EVA_UK10K_ALSPAC ss1629889894 Apr 01, 2015 (144)
41 EVA_DECODE ss1642298206 Apr 01, 2015 (144)
42 EVA_UK10K_TWINSUK ss1672883927 Apr 01, 2015 (144)
43 EVA_EXAC ss1691227128 Apr 01, 2015 (144)
44 EVA_MGP ss1711352320 Apr 01, 2015 (144)
45 ILLUMINA ss1752097710 Sep 08, 2015 (146)
46 ILLUMINA ss1752097711 Sep 08, 2015 (146)
47 HAMMER_LAB ss1807525804 Sep 08, 2015 (146)
48 ILLUMINA ss1917881744 Feb 12, 2016 (147)
49 WEILL_CORNELL_DGM ss1933561055 Feb 12, 2016 (147)
50 ILLUMINA ss1946356366 Feb 12, 2016 (147)
51 ILLUMINA ss1946356367 Feb 12, 2016 (147)
52 ILLUMINA ss1959486996 Feb 12, 2016 (147)
53 ILLUMINA ss1959486997 Feb 12, 2016 (147)
54 JJLAB ss2027534939 Sep 14, 2016 (149)
55 TOPMED ss2358949549 Dec 20, 2016 (150)
56 ILLUMINA ss2633039374 Nov 08, 2017 (151)
57 ILLUMINA ss2710661717 Nov 08, 2017 (151)
58 GNOMAD ss2740316996 Nov 08, 2017 (151)
59 GNOMAD ss2749018520 Nov 08, 2017 (151)
60 GNOMAD ss2917598459 Nov 08, 2017 (151)
61 AFFY ss2984998909 Nov 08, 2017 (151)
62 SWEGEN ss3010720971 Nov 08, 2017 (151)
63 ILLUMINA ss3021491083 Nov 08, 2017 (151)
64 ILLUMINA ss3021491084 Nov 08, 2017 (151)
65 TOPMED ss3187995595 Nov 08, 2017 (151)
66 ILLUMINA ss3625639914 Oct 12, 2018 (152)
67 ILLUMINA ss3627021815 Oct 12, 2018 (152)
68 ILLUMINA ss3627021816 Oct 12, 2018 (152)
69 ILLUMINA ss3631043871 Oct 12, 2018 (152)
70 ILLUMINA ss3633042855 Oct 12, 2018 (152)
71 ILLUMINA ss3633744914 Oct 12, 2018 (152)
72 ILLUMINA ss3634535660 Oct 12, 2018 (152)
73 ILLUMINA ss3634535661 Oct 12, 2018 (152)
74 ILLUMINA ss3636222146 Oct 12, 2018 (152)
75 ILLUMINA ss3637186216 Oct 12, 2018 (152)
76 ILLUMINA ss3638000236 Oct 12, 2018 (152)
77 ILLUMINA ss3640242992 Oct 12, 2018 (152)
78 ILLUMINA ss3640242993 Oct 12, 2018 (152)
79 ILLUMINA ss3642990942 Oct 12, 2018 (152)
80 ILLUMINA ss3644609387 Oct 12, 2018 (152)
81 ILLUMINA ss3644609388 Oct 12, 2018 (152)
82 ILLUMINA ss3651876028 Oct 12, 2018 (152)
83 ILLUMINA ss3651876029 Oct 12, 2018 (152)
84 ILLUMINA ss3653769261 Oct 12, 2018 (152)
85 EVA_DECODE ss3694925552 Jul 13, 2019 (153)
86 ILLUMINA ss3725378592 Jul 13, 2019 (153)
87 ACPOP ss3739582241 Jul 13, 2019 (153)
88 ILLUMINA ss3744108789 Jul 13, 2019 (153)
89 ILLUMINA ss3744404160 Jul 13, 2019 (153)
90 ILLUMINA ss3744836404 Jul 13, 2019 (153)
91 ILLUMINA ss3744836405 Jul 13, 2019 (153)
92 PAGE_CC ss3771734342 Jul 13, 2019 (153)
93 ILLUMINA ss3772335528 Jul 13, 2019 (153)
94 ILLUMINA ss3772335529 Jul 13, 2019 (153)
95 KHV_HUMAN_GENOMES ss3816566688 Jul 13, 2019 (153)
96 EVA ss3824796535 Apr 27, 2020 (154)
97 EVA ss3825834011 Apr 27, 2020 (154)
98 SGDP_PRJ ss3879593049 Apr 27, 2020 (154)
99 FSA-LAB ss3984043663 Apr 26, 2021 (155)
100 EVA ss3986596583 Apr 26, 2021 (155)
101 EVA ss4017622712 Apr 26, 2021 (155)
102 TOPMED ss4939948357 Apr 26, 2021 (155)
103 1000Genomes NC_000013.10 - 25009288 Oct 12, 2018 (152)
104 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 25009288 Oct 12, 2018 (152)
105 Genome-wide autozygosity in Daghestan NC_000013.9 - 23907288 Apr 27, 2020 (154)
106 ExAC NC_000013.10 - 25009288 Oct 12, 2018 (152)
107 FINRISK NC_000013.10 - 25009288 Apr 27, 2020 (154)
108 gnomAD - Genomes NC_000013.11 - 24435150 Apr 26, 2021 (155)
109 gnomAD - Exomes NC_000013.10 - 25009288 Jul 13, 2019 (153)
110 GO Exome Sequencing Project NC_000013.10 - 25009288 Oct 12, 2018 (152)
111 Genome of the Netherlands Release 5 NC_000013.10 - 25009288 Apr 27, 2020 (154)
112 HapMap NC_000013.11 - 24435150 Apr 27, 2020 (154)
113 Medical Genome Project healthy controls from Spanish population NC_000013.10 - 25009288 Apr 27, 2020 (154)
114 Northern Sweden NC_000013.10 - 25009288 Jul 13, 2019 (153)
115 The PAGE Study NC_000013.11 - 24435150 Jul 13, 2019 (153)
116 Qatari NC_000013.10 - 25009288 Apr 27, 2020 (154)
117 SGDP_PRJ NC_000013.10 - 25009288 Apr 27, 2020 (154)
118 TopMed NC_000013.11 - 24435150 Apr 26, 2021 (155)
119 UK 10K study - Twins NC_000013.10 - 25009288 Oct 12, 2018 (152)
120 ALFA NC_000013.11 - 24435150 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)
rs3190398 Jul 03, 2002 (106)
rs52820789 Sep 21, 2007 (128)
rs58911394 May 25, 2008 (130)
rs117768374 Aug 16, 2010 (132)
rs386513818 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
122708, ss85706705, ss114417913, ss168970378, ss198972765, ss479296317, ss491677201, ss1397652017, ss1642298206, ss2710661717, ss3642990942 NC_000013.9:23907287:C:T NC_000013.11:24435149:C:T (self)
60338177, 33509276, 1550711, 82570, 9558426, 1253928, 14950276, 468080, 12867106, 15602985, 31610029, 33509276, ss226080189, ss236176500, ss342373171, ss479299494, ss479680233, ss484448587, ss491056899, ss491477101, ss536615767, ss563550109, ss778359099, ss780695270, ss782670826, ss783369238, ss783639539, ss831921488, ss833813868, ss990192722, ss1067540180, ss1078937670, ss1347494789, ss1584086109, ss1629889894, ss1672883927, ss1691227128, ss1711352320, ss1752097710, ss1752097711, ss1807525804, ss1917881744, ss1933561055, ss1946356366, ss1946356367, ss1959486996, ss1959486997, ss2027534939, ss2358949549, ss2633039374, ss2740316996, ss2749018520, ss2917598459, ss2984998909, ss3010720971, ss3021491083, ss3021491084, ss3625639914, ss3627021815, ss3627021816, ss3631043871, ss3633042855, ss3633744914, ss3634535660, ss3634535661, ss3636222146, ss3637186216, ss3638000236, ss3640242992, ss3640242993, ss3644609387, ss3644609388, ss3651876028, ss3651876029, ss3653769261, ss3739582241, ss3744108789, ss3744404160, ss3744836404, ss3744836405, ss3772335528, ss3772335529, ss3824796535, ss3825834011, ss3879593049, ss3984043663, ss3986596583, ss4017622712 NC_000013.10:25009287:C:T NC_000013.11:24435149:C:T (self)
425509889, 948091, 955811, 97231668, 155494015, 1861344781, ss3187995595, ss3694925552, ss3725378592, ss3771734342, ss3816566688, ss4939948357 NC_000013.11:24435149:C:T NC_000013.11:24435149:C:T (self)
ss1524441, ss4415332, ss5586217, ss69128240, ss74814734, ss74899393, ss86272098, ss159727864, ss159903588, ss170239830 NT_024524.14:5989287:C:T NC_000013.11:24435149: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.

No publications for rs1050114

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