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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.

rs1477297215

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:28535626 (GRCh38.p14) 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>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.000004 (1/251464, GnomAD_exome)
C=0.000007 (1/140186, GnomAD)
G=0.00018 (5/28258, 14KJPN) (+ 1 more)
G=0.00024 (4/16760, 8.3KJPN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
WAC : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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 251464 A=0.999996 C=0.000004
gnomAD - Exomes European Sub 135392 A=0.999993 C=0.000007
gnomAD - Exomes Asian Sub 49010 A=1.00000 C=0.00000
gnomAD - Exomes American Sub 34586 A=1.00000 C=0.00000
gnomAD - Exomes African Sub 16256 A=1.00000 C=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 A=1.00000 C=0.00000
gnomAD - Exomes Other Sub 6140 A=1.0000 C=0.0000
gnomAD - Genomes Global Study-wide 140186 A=0.999993 C=0.000007
gnomAD - Genomes European Sub 75912 A=0.99999 C=0.00001
gnomAD - Genomes African Sub 42022 A=1.00000 C=0.00000
gnomAD - Genomes American Sub 13648 A=1.00000 C=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=1.0000 C=0.0000
gnomAD - Genomes East Asian Sub 3130 A=1.0000 C=0.0000
gnomAD - Genomes Other Sub 2150 A=1.0000 C=0.0000
14KJPN JAPANESE Study-wide 28258 A=0.99982 G=0.00018
8.3KJPN JAPANESE Study-wide 16760 A=0.99976 G=0.00024
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.p14 chr 10 NC_000010.11:g.28535626A>C
GRCh38.p14 chr 10 NC_000010.11:g.28535626A>G
GRCh37.p13 chr 10 NC_000010.10:g.28824555A>C
GRCh37.p13 chr 10 NC_000010.10:g.28824555A>G
WAC RefSeqGene NG_046603.1:g.8039A>C
WAC RefSeqGene NG_046603.1:g.8039A>G
Gene: WAC, WW domain containing adaptor with coiled-coil (plus strand)
Molecule type Change Amino acid[Codon] SO Term
WAC transcript variant 1 NM_016628.5:c.143A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform 1 NP_057712.2:p.Asp48Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant 1 NM_016628.5:c.143A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform 1 NP_057712.2:p.Asp48Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant 3 NM_100486.4:c.143A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform 3 NP_567823.1:p.Asp48Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant 3 NM_100486.4:c.143A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform 3 NP_567823.1:p.Asp48Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant 2 NM_100264.3:c.8A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform 2 NP_567822.1:p.Asp3Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant 2 NM_100264.3:c.8A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform 2 NP_567822.1:p.Asp3Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X14 XM_047425309.1:c.389A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X9 XP_047281265.1:p.Asp130Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X14 XM_047425309.1:c.389A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X9 XP_047281265.1:p.Asp130Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X1 XM_047425310.1:c.281A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X1 XP_047281266.1:p.Asp94Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X1 XM_047425310.1:c.281A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X1 XP_047281266.1:p.Asp94Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X2 XM_047425311.1:c.281A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X2 XP_047281267.1:p.Asp94Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X2 XM_047425311.1:c.281A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X2 XP_047281267.1:p.Asp94Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X3 XM_047425312.1:c.161A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X3 XP_047281268.1:p.Asp54Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X3 XM_047425312.1:c.161A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X3 XP_047281268.1:p.Asp54Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X4 XM_047425313.1:c.143A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X4 XP_047281269.1:p.Asp48Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X4 XM_047425313.1:c.143A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X4 XP_047281269.1:p.Asp48Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X10 XM_047425314.1:c.389A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X10 XP_047281270.1:p.Asp130Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X10 XM_047425314.1:c.389A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X10 XP_047281270.1:p.Asp130Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X5 XM_047425315.1:c.8A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281271.1:p.Asp3Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X5 XM_047425315.1:c.8A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281271.1:p.Asp3Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X6 XM_047425316.1:c.8A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281272.1:p.Asp3Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X6 XM_047425316.1:c.8A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281272.1:p.Asp3Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X15 XM_047425317.1:c.8A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281273.1:p.Asp3Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X15 XM_047425317.1:c.8A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281273.1:p.Asp3Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X7 XM_047425318.1:c.281A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X6 XP_047281274.1:p.Asp94Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X7 XM_047425318.1:c.281A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X6 XP_047281274.1:p.Asp94Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X8 XM_047425319.1:c.143A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X7 XP_047281275.1:p.Asp48Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X8 XM_047425319.1:c.143A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X7 XP_047281275.1:p.Asp48Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X11 XM_047425320.1:c.8A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281276.1:p.Asp3Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X11 XM_047425320.1:c.8A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281276.1:p.Asp3Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X12 XM_047425321.1:c.8A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281277.1:p.Asp3Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X12 XM_047425321.1:c.8A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281277.1:p.Asp3Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X13 XM_047425322.1:c.281A>C D [GAC] > A [GCC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X8 XP_047281278.1:p.Asp94Ala D (Asp) > A (Ala) Missense Variant
WAC transcript variant X13 XM_047425322.1:c.281A>G D [GAC] > G [GGC] Coding Sequence Variant
WW domain-containing adapter protein with coiled-coil isoform X8 XP_047281278.1:p.Asp94Gly D (Asp) > G (Gly) Missense Variant
WAC transcript variant X9 XR_007061967.1:n.753A>C N/A Non Coding Transcript Variant
WAC transcript variant X9 XR_007061967.1:n.753A>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
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= C G
GRCh38.p14 chr 10 NC_000010.11:g.28535626= NC_000010.11:g.28535626A>C NC_000010.11:g.28535626A>G
GRCh37.p13 chr 10 NC_000010.10:g.28824555= NC_000010.10:g.28824555A>C NC_000010.10:g.28824555A>G
WAC RefSeqGene NG_046603.1:g.8039= NG_046603.1:g.8039A>C NG_046603.1:g.8039A>G
WAC transcript variant 1 NM_016628.5:c.143= NM_016628.5:c.143A>C NM_016628.5:c.143A>G
WAC transcript variant 1 NM_016628.4:c.143= NM_016628.4:c.143A>C NM_016628.4:c.143A>G
WAC transcript variant 3 NM_100486.4:c.143= NM_100486.4:c.143A>C NM_100486.4:c.143A>G
WAC transcript variant 3 NM_100486.3:c.143= NM_100486.3:c.143A>C NM_100486.3:c.143A>G
WAC transcript variant 2 NM_100264.3:c.8= NM_100264.3:c.8A>C NM_100264.3:c.8A>G
WAC transcript variant 2 NM_100264.2:c.8= NM_100264.2:c.8A>C NM_100264.2:c.8A>G
WAC transcript variant 2 NM_100264.1:c.8= NM_100264.1:c.8A>C NM_100264.1:c.8A>G
WAC transcript variant 2 NR_024557.2:n.617= NR_024557.2:n.617A>C NR_024557.2:n.617A>G
WAC transcript variant X1 XM_047425310.1:c.281= XM_047425310.1:c.281A>C XM_047425310.1:c.281A>G
WAC transcript variant X2 XM_047425311.1:c.281= XM_047425311.1:c.281A>C XM_047425311.1:c.281A>G
WAC transcript variant X6 XM_047425316.1:c.8= XM_047425316.1:c.8A>C XM_047425316.1:c.8A>G
WAC transcript variant X14 XM_047425309.1:c.389= XM_047425309.1:c.389A>C XM_047425309.1:c.389A>G
WAC transcript variant X3 XM_047425312.1:c.161= XM_047425312.1:c.161A>C XM_047425312.1:c.161A>G
WAC transcript variant X4 XM_047425313.1:c.143= XM_047425313.1:c.143A>C XM_047425313.1:c.143A>G
WAC transcript variant X11 XM_047425320.1:c.8= XM_047425320.1:c.8A>C XM_047425320.1:c.8A>G
WAC transcript variant X5 XM_047425315.1:c.8= XM_047425315.1:c.8A>C XM_047425315.1:c.8A>G
WAC transcript variant X7 XM_047425318.1:c.281= XM_047425318.1:c.281A>C XM_047425318.1:c.281A>G
WAC transcript variant X10 XM_047425314.1:c.389= XM_047425314.1:c.389A>C XM_047425314.1:c.389A>G
WAC transcript variant X12 XM_047425321.1:c.8= XM_047425321.1:c.8A>C XM_047425321.1:c.8A>G
WAC transcript variant X15 XM_047425317.1:c.8= XM_047425317.1:c.8A>C XM_047425317.1:c.8A>G
WAC transcript variant X8 XM_047425319.1:c.143= XM_047425319.1:c.143A>C XM_047425319.1:c.143A>G
WAC transcript variant X9 XR_007061967.1:n.753= XR_007061967.1:n.753A>C XR_007061967.1:n.753A>G
WAC transcript variant X13 XM_047425322.1:c.281= XM_047425322.1:c.281A>C XM_047425322.1:c.281A>G
PRO1741 transcript NM_018604.1:c.16= NM_018604.1:c.16A>C NM_018604.1:c.16A>G
WW domain-containing adapter protein with coiled-coil isoform 1 NP_057712.2:p.Asp48= NP_057712.2:p.Asp48Ala NP_057712.2:p.Asp48Gly
WW domain-containing adapter protein with coiled-coil isoform 3 NP_567823.1:p.Asp48= NP_567823.1:p.Asp48Ala NP_567823.1:p.Asp48Gly
WW domain-containing adapter protein with coiled-coil isoform 2 NP_567822.1:p.Asp3= NP_567822.1:p.Asp3Ala NP_567822.1:p.Asp3Gly
WW domain-containing adapter protein with coiled-coil isoform X1 XP_047281266.1:p.Asp94= XP_047281266.1:p.Asp94Ala XP_047281266.1:p.Asp94Gly
WW domain-containing adapter protein with coiled-coil isoform X2 XP_047281267.1:p.Asp94= XP_047281267.1:p.Asp94Ala XP_047281267.1:p.Asp94Gly
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281272.1:p.Asp3= XP_047281272.1:p.Asp3Ala XP_047281272.1:p.Asp3Gly
WW domain-containing adapter protein with coiled-coil isoform X9 XP_047281265.1:p.Asp130= XP_047281265.1:p.Asp130Ala XP_047281265.1:p.Asp130Gly
WW domain-containing adapter protein with coiled-coil isoform X3 XP_047281268.1:p.Asp54= XP_047281268.1:p.Asp54Ala XP_047281268.1:p.Asp54Gly
WW domain-containing adapter protein with coiled-coil isoform X4 XP_047281269.1:p.Asp48= XP_047281269.1:p.Asp48Ala XP_047281269.1:p.Asp48Gly
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281276.1:p.Asp3= XP_047281276.1:p.Asp3Ala XP_047281276.1:p.Asp3Gly
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281271.1:p.Asp3= XP_047281271.1:p.Asp3Ala XP_047281271.1:p.Asp3Gly
WW domain-containing adapter protein with coiled-coil isoform X6 XP_047281274.1:p.Asp94= XP_047281274.1:p.Asp94Ala XP_047281274.1:p.Asp94Gly
WW domain-containing adapter protein with coiled-coil isoform X10 XP_047281270.1:p.Asp130= XP_047281270.1:p.Asp130Ala XP_047281270.1:p.Asp130Gly
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281277.1:p.Asp3= XP_047281277.1:p.Asp3Ala XP_047281277.1:p.Asp3Gly
WW domain-containing adapter protein with coiled-coil isoform X5 XP_047281273.1:p.Asp3= XP_047281273.1:p.Asp3Ala XP_047281273.1:p.Asp3Gly
WW domain-containing adapter protein with coiled-coil isoform X7 XP_047281275.1:p.Asp48= XP_047281275.1:p.Asp48Ala XP_047281275.1:p.Asp48Gly
WW domain-containing adapter protein with coiled-coil isoform X8 XP_047281278.1:p.Asp94= XP_047281278.1:p.Asp94Ala XP_047281278.1:p.Asp94Gly
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#.

4 SubSNP, 4 Frequency submissions
No Submitter Submission ID Date (Build)
1 GNOMAD ss2738178780 Nov 08, 2017 (151)
2 GNOMAD ss4215263200 Apr 26, 2021 (155)
3 TOMMO_GENOMICS ss5196885510 Apr 26, 2021 (155)
4 TOMMO_GENOMICS ss5741918262 Oct 16, 2022 (156)
5 gnomAD - Genomes NC_000010.11 - 28535626 Apr 26, 2021 (155)
6 gnomAD - Exomes NC_000010.10 - 28824555 Jul 13, 2019 (153)
7 8.3KJPN NC_000010.10 - 28824555 Apr 26, 2021 (155)
8 14KJPN NC_000010.11 - 28535626 Oct 16, 2022 (156)
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
7375580, ss2738178780 NC_000010.10:28824554:A:C NC_000010.11:28535625:A:C (self)
347330457, ss4215263200 NC_000010.11:28535625:A:C NC_000010.11:28535625:A:C (self)
54854817, ss5196885510 NC_000010.10:28824554:A:G NC_000010.11:28535625:A:G (self)
75755366, ss5741918262 NC_000010.11:28535625:A:G NC_000010.11:28535625:A:G
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 rs1477297215

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.post820+afb47a3d