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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.

rs2296034

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:3635228 (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>A / G>C
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.073356 (18434/251296, GnomAD_exome)
A=0.039754 (5575/140236, GnomAD)
A=0.073571 (8903/121012, ExAC) (+ 20 more)
A=0.04051 (3391/83714, ALFA)
A=0.17560 (2943/16760, 8.3KJPN)
A=0.03122 (406/13006, GO-ESP)
A=0.0787 (394/5008, 1000G)
A=0.0844 (378/4480, Estonian)
A=0.0381 (147/3854, ALSPAC)
A=0.0388 (144/3708, TWINSUK)
A=0.1983 (581/2930, KOREAN)
A=0.2222 (407/1832, Korea1K)
A=0.050 (50/998, GoNL)
A=0.216 (132/612, Vietnamese)
A=0.042 (25/600, NorthernSweden)
A=0.021 (11/534, MGP)
A=0.049 (16/328, HapMap)
A=0.056 (17/304, FINRISK)
A=0.032 (7/216, Qatari)
G=0.46 (46/100, SGDP_PRJ)
A=0.07 (3/40, GENOME_DK)
G=0.5 (5/10, Siberian)
A=0.5 (5/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
WRAP73 : 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 1 NC_000001.11:g.3635228G>A
GRCh38.p13 chr 1 NC_000001.11:g.3635228G>C
GRCh37.p13 chr 1 NC_000001.10:g.3551792G>A
GRCh37.p13 chr 1 NC_000001.10:g.3551792G>C
WRAP73 RefSeqGene NG_033937.1:g.19880C>T
WRAP73 RefSeqGene NG_033937.1:g.19880C>G
Gene: WRAP73, WD repeat containing, antisense to TP73 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
WRAP73 transcript NM_017818.4:c.670C>T L [CTG] > L [TTG] Coding Sequence Variant
WD repeat-containing protein WRAP73 NP_060288.3:p.Leu224= L (Leu) > L (Leu) Synonymous Variant
WRAP73 transcript NM_017818.4:c.670C>G L [CTG] > V [GTG] Coding Sequence Variant
WD repeat-containing protein WRAP73 NP_060288.3:p.Leu224Val L (Leu) > V (Val) Missense Variant
WRAP73 transcript variant X2 XM_005244754.2:c.604-154C…

XM_005244754.2:c.604-154C>T

N/A Intron Variant
WRAP73 transcript variant X1 XM_017001387.2:c.670C>T L [CTG] > L [TTG] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X1 XP_016856876.1:p.Leu224= L (Leu) > L (Leu) Synonymous Variant
WRAP73 transcript variant X1 XM_017001387.2:c.670C>G L [CTG] > V [GTG] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X1 XP_016856876.1:p.Leu224Val L (Leu) > V (Val) Missense Variant
WRAP73 transcript variant X3 XR_946661.3:n.736C>T N/A Non Coding Transcript Variant
WRAP73 transcript variant X3 XR_946661.3:n.736C>G 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 83714 G=0.95949 A=0.04051, C=0.00000
European Sub 64984 G=0.95779 A=0.04221, C=0.00000
African Sub 5716 G=0.9930 A=0.0070, C=0.0000
African Others Sub 198 G=1.000 A=0.000, C=0.000
African American Sub 5518 G=0.9928 A=0.0072, C=0.0000
Asian Sub 470 G=0.789 A=0.211, C=0.000
East Asian Sub 382 G=0.798 A=0.202, C=0.000
Other Asian Sub 88 G=0.75 A=0.25, C=0.00
Latin American 1 Sub 876 G=0.982 A=0.018, C=0.000
Latin American 2 Sub 830 G=0.964 A=0.036, C=0.000
South Asian Sub 152 G=0.934 A=0.066, C=0.000
Other Sub 10686 G=0.95761 A=0.04239, C=0.00000


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
gnomAD - Exomes Global Study-wide 251296 G=0.926644 A=0.073356
gnomAD - Exomes European Sub 135252 G=0.953006 A=0.046994
gnomAD - Exomes Asian Sub 49004 G=0.84367 A=0.15633
gnomAD - Exomes American Sub 34588 G=0.89644 A=0.10356
gnomAD - Exomes African Sub 16242 G=0.99200 A=0.00800
gnomAD - Exomes Ashkenazi Jewish Sub 10074 G=0.96655 A=0.03345
gnomAD - Exomes Other Sub 6136 G=0.9400 A=0.0600
gnomAD - Genomes Global Study-wide 140236 G=0.960246 A=0.039754
gnomAD - Genomes European Sub 75942 G=0.95389 A=0.04611
gnomAD - Genomes African Sub 42036 G=0.99125 A=0.00875
gnomAD - Genomes American Sub 13650 G=0.94542 A=0.05458
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9702 A=0.0298
gnomAD - Genomes East Asian Sub 3132 G=0.7567 A=0.2433
gnomAD - Genomes Other Sub 2154 G=0.9540 A=0.0460
ExAC Global Study-wide 121012 G=0.926429 A=0.073571
ExAC Europe Sub 73122 G=0.95056 A=0.04944
ExAC Asian Sub 25108 G=0.84782 A=0.15218
ExAC American Sub 11540 G=0.88692 A=0.11308
ExAC African Sub 10336 G=0.99149 A=0.00851
ExAC Other Sub 906 G=0.918 A=0.082
8.3KJPN JAPANESE Study-wide 16760 G=0.82440 A=0.17560
GO Exome Sequencing Project Global Study-wide 13006 G=0.96878 A=0.03122
GO Exome Sequencing Project European American Sub 8600 G=0.9576 A=0.0424
GO Exome Sequencing Project African American Sub 4406 G=0.9907 A=0.0093
1000Genomes Global Study-wide 5008 G=0.9213 A=0.0787
1000Genomes African Sub 1322 G=0.9955 A=0.0045
1000Genomes East Asian Sub 1008 G=0.8085 A=0.1915
1000Genomes Europe Sub 1006 G=0.9612 A=0.0388
1000Genomes South Asian Sub 978 G=0.885 A=0.115
1000Genomes American Sub 694 G=0.937 A=0.063
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9156 A=0.0844
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9619 A=0.0381
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9612 A=0.0388
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8017 A=0.1983
Korean Genome Project KOREAN Study-wide 1832 G=0.7778 A=0.2222
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.950 A=0.050
A Vietnamese Genetic Variation Database Global Study-wide 612 G=0.784 A=0.216
Northern Sweden ACPOP Study-wide 600 G=0.958 A=0.042
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.979 A=0.021
HapMap Global Study-wide 328 G=0.951 A=0.049
HapMap African Sub 120 G=1.000 A=0.000
HapMap American Sub 120 G=0.975 A=0.025
HapMap Asian Sub 88 G=0.85 A=0.15
FINRISK Finnish from FINRISK project Study-wide 304 G=0.944 A=0.056
Qatari Global Study-wide 216 G=0.968 A=0.032
SGDP_PRJ Global Study-wide 100 G=0.46 A=0.54
The Danish reference pan genome Danish Study-wide 40 G=0.93 A=0.07
Siberian Global Study-wide 10 G=0.5 A=0.5
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= A C
GRCh38.p13 chr 1 NC_000001.11:g.3635228= NC_000001.11:g.3635228G>A NC_000001.11:g.3635228G>C
GRCh37.p13 chr 1 NC_000001.10:g.3551792= NC_000001.10:g.3551792G>A NC_000001.10:g.3551792G>C
WRAP73 RefSeqGene NG_033937.1:g.19880= NG_033937.1:g.19880C>T NG_033937.1:g.19880C>G
WRAP73 transcript NM_017818.4:c.670= NM_017818.4:c.670C>T NM_017818.4:c.670C>G
WRAP73 transcript NM_017818.3:c.670= NM_017818.3:c.670C>T NM_017818.3:c.670C>G
WRAP73 transcript variant X3 XR_946661.3:n.736= XR_946661.3:n.736C>T XR_946661.3:n.736C>G
WRAP73 transcript variant X1 XM_017001387.2:c.670= XM_017001387.2:c.670C>T XM_017001387.2:c.670C>G
WD repeat-containing protein WRAP73 NP_060288.3:p.Leu224= NP_060288.3:p.Leu224= NP_060288.3:p.Leu224Val
WD repeat-containing protein WRAP73 isoform X1 XP_016856876.1:p.Leu224= XP_016856876.1:p.Leu224= XP_016856876.1:p.Leu224Val
WRAP73 transcript variant X2 XM_005244754.1:c.604-154= XM_005244754.1:c.604-154C>T XM_005244754.1:c.604-154C>G
WRAP73 transcript variant X2 XM_005244754.2:c.604-154= XM_005244754.2:c.604-154C>T XM_005244754.2:c.604-154C>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#.

77 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3239998 Sep 28, 2001 (100)
2 PERLEGEN ss23839022 Sep 20, 2004 (123)
3 PERLEGEN ss68756652 May 18, 2007 (127)
4 HGSV ss82291037 Dec 15, 2007 (130)
5 CORNELL ss86238863 Mar 23, 2008 (129)
6 GMI ss154558806 Dec 01, 2009 (131)
7 SEATTLESEQ ss159695836 Dec 01, 2009 (131)
8 ILLUMINA ss160532004 Dec 01, 2009 (131)
9 BCM-HGSC-SUB ss205279417 Jul 04, 2010 (132)
10 1000GENOMES ss217314392 Jul 14, 2010 (132)
11 1000GENOMES ss217390848 Jul 14, 2010 (132)
12 1000GENOMES ss217392077 Jul 14, 2010 (132)
13 1000GENOMES ss217399972 Jul 14, 2010 (132)
14 1000GENOMES ss217410480 Jul 14, 2010 (132)
15 1000GENOMES ss230403537 Jul 14, 2010 (132)
16 1000GENOMES ss238122495 Jul 15, 2010 (132)
17 GMI ss275690959 May 04, 2012 (137)
18 GMI ss283990801 Apr 25, 2013 (138)
19 NHLBI-ESP ss341927381 May 09, 2011 (134)
20 ILLUMINA ss481342490 Sep 08, 2015 (146)
21 ILLUMINA ss482323580 May 04, 2012 (137)
22 ILLUMINA ss483993227 May 04, 2012 (137)
23 1000GENOMES ss489716401 May 04, 2012 (137)
24 CLINSEQ_SNP ss491582833 May 04, 2012 (137)
25 ILLUMINA ss536186443 Sep 08, 2015 (146)
26 SSMP ss647535186 Apr 25, 2013 (138)
27 ILLUMINA ss780663896 Sep 08, 2015 (146)
28 ILLUMINA ss782440863 Sep 08, 2015 (146)
29 ILLUMINA ss783603839 Sep 08, 2015 (146)
30 ILLUMINA ss836159510 Sep 08, 2015 (146)
31 EVA-GONL ss974794687 Aug 21, 2014 (142)
32 JMKIDD_LAB ss1067415153 Aug 21, 2014 (142)
33 1000GENOMES ss1289445087 Aug 21, 2014 (142)
34 EVA_GENOME_DK ss1573859466 Apr 01, 2015 (144)
35 EVA_FINRISK ss1584004016 Apr 01, 2015 (144)
36 EVA_DECODE ss1584153629 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1599424146 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1642418179 Apr 01, 2015 (144)
39 EVA_EXAC ss1685260372 Apr 01, 2015 (144)
40 EVA_MGP ss1710885481 Apr 01, 2015 (144)
41 WEILL_CORNELL_DGM ss1917990172 Feb 12, 2016 (147)
42 GENOMED ss1966671084 Jul 19, 2016 (147)
43 JJLAB ss2019511247 Sep 14, 2016 (149)
44 USC_VALOUEV ss2147501579 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2159561297 Dec 20, 2016 (150)
46 TOPMED ss2321716431 Dec 20, 2016 (150)
47 ILLUMINA ss2632468444 Nov 08, 2017 (151)
48 GRF ss2697395488 Nov 08, 2017 (151)
49 GNOMAD ss2731054746 Nov 08, 2017 (151)
50 GNOMAD ss2746194456 Nov 08, 2017 (151)
51 GNOMAD ss2750954803 Nov 08, 2017 (151)
52 SWEGEN ss2986198795 Nov 08, 2017 (151)
53 BIOINF_KMB_FNS_UNIBA ss3023519248 Nov 08, 2017 (151)
54 TOPMED ss3067088161 Nov 08, 2017 (151)
55 CSHL ss3343288073 Nov 08, 2017 (151)
56 ILLUMINA ss3626011525 Oct 11, 2018 (152)
57 ILLUMINA ss3630507810 Oct 11, 2018 (152)
58 ILLUMINA ss3635979692 Oct 11, 2018 (152)
59 OMUKHERJEE_ADBS ss3646220103 Oct 11, 2018 (152)
60 EGCUT_WGS ss3654299882 Jul 12, 2019 (153)
61 EVA_DECODE ss3686044048 Jul 12, 2019 (153)
62 ACPOP ss3726738613 Jul 12, 2019 (153)
63 EVA ss3745753140 Jul 12, 2019 (153)
64 KHV_HUMAN_GENOMES ss3798774858 Jul 12, 2019 (153)
65 EVA ss3823550283 Apr 25, 2020 (154)
66 EVA ss3825551139 Apr 25, 2020 (154)
67 SGDP_PRJ ss3848065923 Apr 25, 2020 (154)
68 KRGDB ss3892926895 Apr 25, 2020 (154)
69 KOGIC ss3943689157 Apr 25, 2020 (154)
70 FSA-LAB ss3983912923 Apr 25, 2021 (155)
71 FSA-LAB ss3983912924 Apr 25, 2021 (155)
72 EVA ss3986008142 Apr 25, 2021 (155)
73 EVA ss3986095095 Apr 25, 2021 (155)
74 TOPMED ss4437255049 Apr 25, 2021 (155)
75 TOPMED ss4437255050 Apr 25, 2021 (155)
76 TOMMO_GENOMICS ss5142194541 Apr 25, 2021 (155)
77 EVA ss5236863346 Apr 25, 2021 (155)
78 1000Genomes NC_000001.10 - 3551792 Oct 11, 2018 (152)
79 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 3551792 Oct 11, 2018 (152)
80 Genetic variation in the Estonian population NC_000001.10 - 3551792 Oct 11, 2018 (152)
81 ExAC NC_000001.10 - 3551792 Oct 11, 2018 (152)
82 FINRISK NC_000001.10 - 3551792 Apr 25, 2020 (154)
83 The Danish reference pan genome NC_000001.10 - 3551792 Apr 25, 2020 (154)
84 gnomAD - Genomes NC_000001.11 - 3635228 Apr 25, 2021 (155)
85 gnomAD - Exomes NC_000001.10 - 3551792 Jul 12, 2019 (153)
86 GO Exome Sequencing Project NC_000001.10 - 3551792 Oct 11, 2018 (152)
87 Genome of the Netherlands Release 5 NC_000001.10 - 3551792 Apr 25, 2020 (154)
88 HapMap NC_000001.11 - 3635228 Apr 25, 2020 (154)
89 KOREAN population from KRGDB NC_000001.10 - 3551792 Apr 25, 2020 (154)
90 Korean Genome Project NC_000001.11 - 3635228 Apr 25, 2020 (154)
91 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 3551792 Apr 25, 2020 (154)
92 Northern Sweden NC_000001.10 - 3551792 Jul 12, 2019 (153)
93 Qatari NC_000001.10 - 3551792 Apr 25, 2020 (154)
94 SGDP_PRJ NC_000001.10 - 3551792 Apr 25, 2020 (154)
95 Siberian NC_000001.10 - 3551792 Apr 25, 2020 (154)
96 8.3KJPN NC_000001.10 - 3551792 Apr 25, 2021 (155)
97 TopMed

Submission ignored due to conflicting rows:
Row 861384 (NC_000001.11:3635227:G:A 11740/264690)
Row 861385 (NC_000001.11:3635227:G:C 1/264690)

- Apr 25, 2021 (155)
98 TopMed

Submission ignored due to conflicting rows:
Row 861384 (NC_000001.11:3635227:G:A 11740/264690)
Row 861385 (NC_000001.11:3635227:G:C 1/264690)

- Apr 25, 2021 (155)
99 UK 10K study - Twins NC_000001.10 - 3551792 Oct 11, 2018 (152)
100 A Vietnamese Genetic Variation Database NC_000001.10 - 3551792 Jul 12, 2019 (153)
101 ALFA NC_000001.11 - 3635228 Apr 25, 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)
rs58650671 May 24, 2008 (130)
rs117438678 Aug 16, 2010 (132)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss82291037 NC_000001.8:3574948:G:A NC_000001.11:3635227:G:A (self)
ss205279417, ss217314392, ss217390848, ss217392077, ss217399972, ss217410480, ss275690959, ss283990801, ss482323580, ss491582833, ss1584153629 NC_000001.9:3541651:G:A NC_000001.11:3635227:G:A (self)
112915, 50130, 38130, 4436603, 477, 1366700, 69676, 9017, 21503, 104289, 2233, 23478, 32102, 82903, 17933, 163848, 50130, 10475, ss230403537, ss238122495, ss341927381, ss481342490, ss483993227, ss489716401, ss536186443, ss647535186, ss780663896, ss782440863, ss783603839, ss836159510, ss974794687, ss1067415153, ss1289445087, ss1573859466, ss1584004016, ss1599424146, ss1642418179, ss1685260372, ss1710885481, ss1917990172, ss1966671084, ss2019511247, ss2147501579, ss2321716431, ss2632468444, ss2697395488, ss2731054746, ss2746194456, ss2750954803, ss2986198795, ss3343288073, ss3626011525, ss3630507810, ss3635979692, ss3646220103, ss3654299882, ss3726738613, ss3745753140, ss3823550283, ss3825551139, ss3848065923, ss3892926895, ss3983912923, ss3983912924, ss3986008142, ss3986095095, ss5142194541 NC_000001.10:3551791:G:A NC_000001.11:3635227:G:A (self)
821450, 2599, 67158, 535384, 5927899172, ss2159561297, ss3023519248, ss3067088161, ss3686044048, ss3798774858, ss3943689157, ss4437255049, ss5236863346 NC_000001.11:3635227:G:A NC_000001.11:3635227:G:A (self)
ss3239998, ss23839022, ss68756652, ss86238863, ss154558806, ss159695836, ss160532004 NT_004350.19:3030423:G:A NC_000001.11:3635227:G:A (self)
5927899172, ss4437255050 NC_000001.11:3635227:G:C NC_000001.11:3635227:G:C
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 rs2296034

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