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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.

rs76211155

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:3631486 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.025690 (6800/264690, TOPMED)
A=0.006963 (1617/232212, GnomAD_exome)
A=0.024251 (3401/140242, GnomAD) (+ 10 more)
A=0.00857 (510/59540, ALFA)
A=0.01527 (811/53102, ExAC)
A=0.02386 (310/12994, GO-ESP)
A=0.0208 (104/5008, 1000G)
A=0.0008 (3/3854, ALSPAC)
A=0.0005 (2/3708, TWINSUK)
A=0.001 (1/998, GoNL)
A=0.014 (3/216, Qatari)
G=0.50 (7/14, SGDP_PRJ)
A=0.50 (7/14, SGDP_PRJ)
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.3631486G>A
GRCh37.p13 chr 1 NC_000001.10:g.3548050G>A
WRAP73 RefSeqGene NG_033937.1:g.23622C>T
Gene: WRAP73, WD repeat containing, antisense to TP73 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
WRAP73 transcript NM_017818.4:c.1220C>T S [TCG] > L [TTG] Coding Sequence Variant
WD repeat-containing protein WRAP73 NP_060288.3:p.Ser407Leu S (Ser) > L (Leu) Missense Variant
WRAP73 transcript variant X1 XM_017001387.2:c.1199C>T S [TCG] > L [TTG] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X1 XP_016856876.1:p.Ser400Leu S (Ser) > L (Leu) Missense Variant
WRAP73 transcript variant X2 XM_005244754.2:c.1085C>T S [TCG] > L [TTG] Coding Sequence Variant
WD repeat-containing protein WRAP73 isoform X2 XP_005244811.1:p.Ser362Leu S (Ser) > L (Leu) Missense Variant
WRAP73 transcript variant X3 XR_946661.3:n.1294C>T 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 59540 G=0.99143 A=0.00857
European Sub 44518 G=0.99647 A=0.00353
African Sub 3862 G=0.9360 A=0.0640
African Others Sub 122 G=0.926 A=0.074
African American Sub 3740 G=0.9364 A=0.0636
Asian Sub 190 G=1.000 A=0.000
East Asian Sub 130 G=1.000 A=0.000
Other Asian Sub 60 G=1.00 A=0.00
Latin American 1 Sub 516 G=0.963 A=0.037
Latin American 2 Sub 662 G=0.994 A=0.006
South Asian Sub 114 G=1.000 A=0.000
Other Sub 9678 G=0.9914 A=0.0086


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=0.974310 A=0.025690
gnomAD - Exomes Global Study-wide 232212 G=0.993037 A=0.006963
gnomAD - Exomes European Sub 123106 G=0.999301 A=0.000699
gnomAD - Exomes Asian Sub 46526 G=0.99991 A=0.00009
gnomAD - Exomes American Sub 33068 G=0.99552 A=0.00448
gnomAD - Exomes African Sub 14188 G=0.92853 A=0.07147
gnomAD - Exomes Ashkenazi Jewish Sub 9582 G=0.9658 A=0.0342
gnomAD - Exomes Other Sub 5742 G=0.9936 A=0.0064
gnomAD - Genomes Global Study-wide 140242 G=0.975749 A=0.024251
gnomAD - Genomes European Sub 75948 G=0.99909 A=0.00091
gnomAD - Genomes African Sub 42032 G=0.92760 A=0.07240
gnomAD - Genomes American Sub 13658 G=0.99026 A=0.00974
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.9672 A=0.0328
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2148 G=0.9781 A=0.0219
ExAC Global Study-wide 53102 G=0.98473 A=0.01527
ExAC Europe Sub 28952 G=0.99465 A=0.00535
ExAC Asian Sub 14406 G=0.99979 A=0.00021
ExAC African Sub 5404 G=0.8890 A=0.1110
ExAC American Sub 3916 G=0.9872 A=0.0128
ExAC Other Sub 424 G=0.993 A=0.007
GO Exome Sequencing Project Global Study-wide 12994 G=0.97614 A=0.02386
GO Exome Sequencing Project European American Sub 8598 G=0.9972 A=0.0028
GO Exome Sequencing Project African American Sub 4396 G=0.9349 A=0.0651
1000Genomes Global Study-wide 5008 G=0.9792 A=0.0208
1000Genomes African Sub 1322 G=0.9251 A=0.0749
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=1.0000 A=0.0000
1000Genomes South Asian Sub 978 G=1.000 A=0.000
1000Genomes American Sub 694 G=0.993 A=0.007
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9992 A=0.0008
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9995 A=0.0005
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.999 A=0.001
Qatari Global Study-wide 216 G=0.986 A=0.014
SGDP_PRJ Global Study-wide 14 G=0.50 A=0.50
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
GRCh38.p13 chr 1 NC_000001.11:g.3631486= NC_000001.11:g.3631486G>A
GRCh37.p13 chr 1 NC_000001.10:g.3548050= NC_000001.10:g.3548050G>A
WRAP73 RefSeqGene NG_033937.1:g.23622= NG_033937.1:g.23622C>T
WRAP73 transcript NM_017818.4:c.1220= NM_017818.4:c.1220C>T
WRAP73 transcript NM_017818.3:c.1220= NM_017818.3:c.1220C>T
WRAP73 transcript variant X3 XR_946661.3:n.1294= XR_946661.3:n.1294C>T
WRAP73 transcript variant X1 XM_017001387.2:c.1199= XM_017001387.2:c.1199C>T
WRAP73 transcript variant X2 XM_005244754.2:c.1085= XM_005244754.2:c.1085C>T
WRAP73 transcript variant X2 XM_005244754.1:c.1085= XM_005244754.1:c.1085C>T
WD repeat-containing protein WRAP73 NP_060288.3:p.Ser407= NP_060288.3:p.Ser407Leu
WD repeat-containing protein WRAP73 isoform X1 XP_016856876.1:p.Ser400= XP_016856876.1:p.Ser400Leu
WD repeat-containing protein WRAP73 isoform X2 XP_005244811.1:p.Ser362= XP_005244811.1:p.Ser362Leu
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#.

43 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 SEATTLESEQ ss159695832 Dec 01, 2009 (131)
2 ILLUMINA ss161048721 Dec 01, 2009 (131)
3 BUSHMAN ss197922316 Jul 04, 2010 (132)
4 1000GENOMES ss217405785 Jul 14, 2010 (132)
5 1000GENOMES ss217410937 Jul 14, 2010 (132)
6 1000GENOMES ss218202386 Jul 14, 2010 (132)
7 NHLBI-ESP ss341927334 May 09, 2011 (134)
8 ILLUMINA ss479218085 Sep 08, 2015 (146)
9 ILLUMINA ss480953438 May 04, 2012 (137)
10 ILLUMINA ss482323524 May 04, 2012 (137)
11 1000GENOMES ss489716379 May 04, 2012 (137)
12 EXOME_CHIP ss491284964 May 04, 2012 (137)
13 CLINSEQ_SNP ss491582818 May 04, 2012 (137)
14 TISHKOFF ss553733205 Apr 25, 2013 (138)
15 ILLUMINA ss781359890 Sep 08, 2015 (146)
16 EVA-GONL ss974794648 Aug 21, 2014 (142)
17 JMKIDD_LAB ss1067415148 Aug 21, 2014 (142)
18 JMKIDD_LAB ss1067626223 Aug 21, 2014 (142)
19 1000GENOMES ss1289444935 Aug 21, 2014 (142)
20 EVA_UK10K_ALSPAC ss1599424081 Apr 01, 2015 (144)
21 EVA_UK10K_TWINSUK ss1642418114 Apr 01, 2015 (144)
22 EVA_EXAC ss1685260156 Apr 01, 2015 (144)
23 WEILL_CORNELL_DGM ss1917990138 Feb 12, 2016 (147)
24 ILLUMINA ss1958234491 Feb 12, 2016 (147)
25 HUMAN_LONGEVITY ss2159561001 Dec 20, 2016 (150)
26 TOPMED ss2321716103 Dec 20, 2016 (150)
27 GNOMAD ss2731054451 Nov 08, 2017 (151)
28 GNOMAD ss2746194362 Nov 08, 2017 (151)
29 GNOMAD ss2750954448 Nov 08, 2017 (151)
30 AFFY ss2984842496 Nov 08, 2017 (151)
31 ILLUMINA ss3021047387 Nov 08, 2017 (151)
32 TOPMED ss3067087350 Nov 08, 2017 (151)
33 ILLUMINA ss3635979690 Oct 11, 2018 (152)
34 ILLUMINA ss3651370033 Oct 11, 2018 (152)
35 ILLUMINA ss3653616292 Oct 11, 2018 (152)
36 EVA_DECODE ss3686043983 Jul 12, 2019 (153)
37 KHV_HUMAN_GENOMES ss3798774820 Jul 12, 2019 (153)
38 EVA ss3823550223 Apr 25, 2020 (154)
39 EVA ss3825551128 Apr 25, 2020 (154)
40 SGDP_PRJ ss3848065854 Apr 25, 2020 (154)
41 FSA-LAB ss3983912912 Apr 25, 2021 (155)
42 EVA ss3986095077 Apr 25, 2021 (155)
43 TOPMED ss4437253911 Apr 25, 2021 (155)
44 1000Genomes NC_000001.10 - 3548050 Oct 11, 2018 (152)
45 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 3548050 Oct 11, 2018 (152)
46 ExAC NC_000001.10 - 3548050 Oct 11, 2018 (152)
47 gnomAD - Genomes NC_000001.11 - 3631486 Apr 25, 2021 (155)
48 gnomAD - Exomes NC_000001.10 - 3548050 Jul 12, 2019 (153)
49 GO Exome Sequencing Project NC_000001.10 - 3548050 Oct 11, 2018 (152)
50 Genome of the Netherlands Release 5 NC_000001.10 - 3548050 Apr 25, 2020 (154)
51 Qatari NC_000001.10 - 3548050 Apr 25, 2020 (154)
52 SGDP_PRJ NC_000001.10 - 3548050 Apr 25, 2020 (154)
53 TopMed NC_000001.11 - 3631486 Apr 25, 2021 (155)
54 UK 10K study - Twins NC_000001.10 - 3548050 Oct 11, 2018 (152)
55 ALFA NC_000001.11 - 3631486 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss197922316, ss217405785, ss217410937, ss482323524, ss491582818 NC_000001.9:3537909:G:A NC_000001.11:3631485:G:A (self)
112758, 50060, 4436377, 69346, 8957, 21467, 32068, 82834, 50060, ss218202386, ss341927334, ss479218085, ss480953438, ss489716379, ss491284964, ss553733205, ss781359890, ss974794648, ss1067415148, ss1067626223, ss1289444935, ss1599424081, ss1642418114, ss1685260156, ss1917990138, ss1958234491, ss2321716103, ss2731054451, ss2746194362, ss2750954448, ss2984842496, ss3021047387, ss3635979690, ss3651370033, ss3653616292, ss3823550223, ss3825551128, ss3848065854, ss3983912912, ss3986095077 NC_000001.10:3548049:G:A NC_000001.11:3631485:G:A (self)
820573, 534665, 860246, 8284544340, ss2159561001, ss3067087350, ss3686043983, ss3798774820, ss4437253911 NC_000001.11:3631485:G:A NC_000001.11:3631485:G:A (self)
ss159695832, ss161048721 NT_004350.19:3026681:G:A NC_000001.11:3631485:G:A (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 rs76211155

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