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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.

rs1485033879

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:50080871 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.00000 (0/11862, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
WASHC2A : Synonymous Variant
Publications
0 citations
Genomic View
See rs on genome

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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 11862 A=1.00000 G=0.00000 1.0 0.0 0.0 N/A
European Sub 7618 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Sub 2816 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
African Others Sub 108 A=1.000 G=0.000 1.0 0.0 0.0 N/A
African American Sub 2708 A=1.0000 G=0.0000 1.0 0.0 0.0 N/A
Asian Sub 108 A=1.000 G=0.000 1.0 0.0 0.0 N/A
East Asian Sub 84 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 24 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 146 A=1.000 G=0.000 1.0 0.0 0.0 N/A
Latin American 2 Sub 610 A=1.000 G=0.000 1.0 0.0 0.0 N/A
South Asian Sub 94 A=1.00 G=0.00 1.0 0.0 0.0 N/A
Other Sub 470 A=1.000 G=0.000 1.0 0.0 0.0 N/A


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 11862 A=1.00000 G=0.00000
Allele Frequency Aggregator European Sub 7618 A=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 2816 A=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 A=1.000 G=0.000
Allele Frequency Aggregator Other Sub 470 A=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 A=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 108 A=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 94 A=1.00 G=0.00
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.50080871A>G
GRCh37.p13 chr 10 NC_000010.10:g.51840631A>G
GRCh37.p13 chr 10 fix patch HG1074_PATCH NW_004504302.1:g.260046A>G
Gene: WASHC2A, WASH complex subunit 2A (plus strand)
Molecule type Change Amino acid[Codon] SO Term
WASHC2A transcript variant 1 NM_001005751.3:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform 1 NP_001005751.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant 3 NM_001330102.2:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform 3 NP_001317031.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant 2 NM_001291398.2:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform 2 NP_001278327.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X27 XM_005269810.4:c. N/A Genic Upstream Transcript Variant
WASHC2A transcript variant X23 XM_017016233.2:c. N/A Genic Upstream Transcript Variant
WASHC2A transcript variant X26 XM_024447991.2:c. N/A Genic Upstream Transcript Variant
WASHC2A transcript variant X24 XM_047425218.1:c. N/A Genic Upstream Transcript Variant
WASHC2A transcript variant X1 XM_005269806.4:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X1 XP_005269863.2:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X2 XM_005269807.4:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X2 XP_005269864.2:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X3 XM_017016227.2:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X3 XP_016871716.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X4 XM_017016228.2:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X4 XP_016871717.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X5 XM_017016229.2:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X5 XP_016871718.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X6 XM_006717831.4:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X6 XP_006717894.2:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X7 XM_047425206.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X7 XP_047281162.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X8 XM_047425207.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X8 XP_047281163.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X9 XM_017016231.2:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X9 XP_016871720.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X10 XM_017016232.2:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X10 XP_016871721.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X11 XM_047425208.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X11 XP_047281164.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X12 XM_047425209.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X12 XP_047281165.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X13 XM_047425210.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X13 XP_047281166.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X14 XM_047425211.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X14 XP_047281167.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X15 XM_047425212.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X15 XP_047281168.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X16 XM_006717832.4:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X16 XP_006717895.2:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X17 XM_047425213.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X17 XP_047281169.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X18 XM_047425214.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X18 XP_047281170.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X19 XM_047425215.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X19 XP_047281171.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X20 XM_011539786.3:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X20 XP_011538088.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X21 XM_047425216.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X21 XP_047281172.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X22 XM_047425217.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X22 XP_047281173.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X25 XM_047425219.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X25 XP_047281175.1:p.Gly156= G (Gly) > G (Gly) Synonymous Variant
WASHC2A transcript variant X28 XM_047425220.1:c.468A>G G [GGA] > G [GGG] Coding Sequence Variant
WASH complex subunit 2A isoform X28 XP_047281176.1:p.Gly156= G (Gly) > G (Gly) Synonymous 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= G
GRCh38.p14 chr 10 NC_000010.11:g.50080871= NC_000010.11:g.50080871A>G
GRCh37.p13 chr 10 NC_000010.10:g.51840631= NC_000010.10:g.51840631A>G
GRCh37.p13 chr 10 fix patch HG1074_PATCH NW_004504302.1:g.260046= NW_004504302.1:g.260046A>G
WASHC2A transcript variant X1 XM_005269806.4:c.468= XM_005269806.4:c.468A>G
WASHC2A transcript variant X1 XM_005269806.3:c.468= XM_005269806.3:c.468A>G
FAM21A transcript variant X1 XM_005269806.2:c.468= XM_005269806.2:c.468A>G
FAM21A transcript variant X2 XM_005269806.1:c.624= XM_005269806.1:c.624A>G
WASHC2A transcript variant X2 XM_005269807.4:c.468= XM_005269807.4:c.468A>G
WASHC2A transcript variant X2 XM_005269807.3:c.468= XM_005269807.3:c.468A>G
FAM21A transcript variant X2 XM_005269807.2:c.468= XM_005269807.2:c.468A>G
FAM21A transcript variant X3 XM_005269807.1:c.624= XM_005269807.1:c.624A>G
WASHC2A transcript variant X6 XM_006717831.4:c.468= XM_006717831.4:c.468A>G
WASHC2A transcript variant X6 XM_006717831.3:c.468= XM_006717831.3:c.468A>G
FAM21A transcript variant X3 XM_006717831.2:c.468= XM_006717831.2:c.468A>G
FAM21A transcript variant X7 XM_006717831.1:c.624= XM_006717831.1:c.624A>G
WASHC2A transcript variant X16 XM_006717832.4:c.468= XM_006717832.4:c.468A>G
WASHC2A transcript variant X10 XM_006717832.3:c.468= XM_006717832.3:c.468A>G
FAM21A transcript variant X5 XM_006717832.2:c.468= XM_006717832.2:c.468A>G
FAM21A transcript variant X8 XM_006717832.1:c.624= XM_006717832.1:c.624A>G
WASHC2A transcript variant 1 NM_001005751.3:c.468= NM_001005751.3:c.468A>G
WASHC2A transcript variant 1 NM_001005751.2:c.468= NM_001005751.2:c.468A>G
FAM21A transcript NM_001005751.1:c.468= NM_001005751.1:c.468A>G
WASHC2A transcript variant X20 XM_011539786.3:c.468= XM_011539786.3:c.468A>G
WASHC2A transcript variant X11 XM_011539786.2:c.468= XM_011539786.2:c.468A>G
FAM21A transcript variant X6 XM_011539786.1:c.468= XM_011539786.1:c.468A>G
WASHC2A transcript variant 2 NM_001291398.2:c.468= NM_001291398.2:c.468A>G
WASHC2A transcript variant 2 NM_001291398.1:c.468= NM_001291398.1:c.468A>G
WASHC2A transcript variant X3 XM_017016227.2:c.468= XM_017016227.2:c.468A>G
WASHC2A transcript variant X3 XM_017016227.1:c.468= XM_017016227.1:c.468A>G
WASHC2A transcript variant X4 XM_017016228.2:c.468= XM_017016228.2:c.468A>G
WASHC2A transcript variant X4 XM_017016228.1:c.468= XM_017016228.1:c.468A>G
WASHC2A transcript variant X5 XM_017016229.2:c.468= XM_017016229.2:c.468A>G
WASHC2A transcript variant X5 XM_017016229.1:c.468= XM_017016229.1:c.468A>G
WASHC2A transcript variant 3 NM_001330102.2:c.468= NM_001330102.2:c.468A>G
WASHC2A transcript variant 3 NM_001330102.1:c.468= NM_001330102.1:c.468A>G
WASHC2A transcript variant X9 XM_017016231.2:c.468= XM_017016231.2:c.468A>G
WASHC2A transcript variant X8 XM_017016231.1:c.468= XM_017016231.1:c.468A>G
WASHC2A transcript variant X10 XM_017016232.2:c.468= XM_017016232.2:c.468A>G
WASHC2A transcript variant X9 XM_017016232.1:c.468= XM_017016232.1:c.468A>G
WASHC2A transcript variant X7 XM_047425206.1:c.468= XM_047425206.1:c.468A>G
WASHC2A transcript variant X8 XM_047425207.1:c.468= XM_047425207.1:c.468A>G
WASHC2A transcript variant X11 XM_047425208.1:c.468= XM_047425208.1:c.468A>G
WASHC2A transcript variant X12 XM_047425209.1:c.468= XM_047425209.1:c.468A>G
WASHC2A transcript variant X13 XM_047425210.1:c.468= XM_047425210.1:c.468A>G
WASHC2A transcript variant X14 XM_047425211.1:c.468= XM_047425211.1:c.468A>G
WASHC2A transcript variant X15 XM_047425212.1:c.468= XM_047425212.1:c.468A>G
WASHC2A transcript variant X17 XM_047425213.1:c.468= XM_047425213.1:c.468A>G
FAM21B transcript NM_018232.1:c.204= NM_018232.1:c.204A>G
WASHC2A transcript variant X18 XM_047425214.1:c.468= XM_047425214.1:c.468A>G
WASHC2A transcript variant X19 XM_047425215.1:c.468= XM_047425215.1:c.468A>G
WASHC2A transcript variant X21 XM_047425216.1:c.468= XM_047425216.1:c.468A>G
WASHC2A transcript variant X22 XM_047425217.1:c.468= XM_047425217.1:c.468A>G
WASHC2A transcript variant X25 XM_047425219.1:c.468= XM_047425219.1:c.468A>G
WASHC2A transcript variant X28 XM_047425220.1:c.468= XM_047425220.1:c.468A>G
WASH complex subunit 2A isoform X1 XP_005269863.2:p.Gly156= XP_005269863.2:p.Gly156=
WASH complex subunit 2A isoform X2 XP_005269864.2:p.Gly156= XP_005269864.2:p.Gly156=
WASH complex subunit 2A isoform X6 XP_006717894.2:p.Gly156= XP_006717894.2:p.Gly156=
WASH complex subunit 2A isoform X16 XP_006717895.2:p.Gly156= XP_006717895.2:p.Gly156=
WASH complex subunit 2A isoform 1 NP_001005751.1:p.Gly156= NP_001005751.1:p.Gly156=
WASH complex subunit 2A isoform X20 XP_011538088.1:p.Gly156= XP_011538088.1:p.Gly156=
WASH complex subunit 2A isoform 2 NP_001278327.1:p.Gly156= NP_001278327.1:p.Gly156=
WASH complex subunit 2A isoform X3 XP_016871716.1:p.Gly156= XP_016871716.1:p.Gly156=
WASH complex subunit 2A isoform X4 XP_016871717.1:p.Gly156= XP_016871717.1:p.Gly156=
WASH complex subunit 2A isoform X5 XP_016871718.1:p.Gly156= XP_016871718.1:p.Gly156=
WASH complex subunit 2A isoform 3 NP_001317031.1:p.Gly156= NP_001317031.1:p.Gly156=
WASH complex subunit 2A isoform X9 XP_016871720.1:p.Gly156= XP_016871720.1:p.Gly156=
WASH complex subunit 2A isoform X10 XP_016871721.1:p.Gly156= XP_016871721.1:p.Gly156=
WASH complex subunit 2A isoform X7 XP_047281162.1:p.Gly156= XP_047281162.1:p.Gly156=
WASH complex subunit 2A isoform X8 XP_047281163.1:p.Gly156= XP_047281163.1:p.Gly156=
WASH complex subunit 2A isoform X11 XP_047281164.1:p.Gly156= XP_047281164.1:p.Gly156=
WASH complex subunit 2A isoform X12 XP_047281165.1:p.Gly156= XP_047281165.1:p.Gly156=
WASH complex subunit 2A isoform X13 XP_047281166.1:p.Gly156= XP_047281166.1:p.Gly156=
WASH complex subunit 2A isoform X14 XP_047281167.1:p.Gly156= XP_047281167.1:p.Gly156=
WASH complex subunit 2A isoform X15 XP_047281168.1:p.Gly156= XP_047281168.1:p.Gly156=
WASH complex subunit 2A isoform X17 XP_047281169.1:p.Gly156= XP_047281169.1:p.Gly156=
WASH complex subunit 2A isoform X18 XP_047281170.1:p.Gly156= XP_047281170.1:p.Gly156=
WASH complex subunit 2A isoform X19 XP_047281171.1:p.Gly156= XP_047281171.1:p.Gly156=
WASH complex subunit 2A isoform X21 XP_047281172.1:p.Gly156= XP_047281172.1:p.Gly156=
WASH complex subunit 2A isoform X22 XP_047281173.1:p.Gly156= XP_047281173.1:p.Gly156=
WASH complex subunit 2A isoform X25 XP_047281175.1:p.Gly156= XP_047281175.1:p.Gly156=
WASH complex subunit 2A isoform X28 XP_047281176.1:p.Gly156= XP_047281176.1:p.Gly156=
WASH complex subunit FAM21A isoform X2 XP_005269863.1:p.Gly208= XP_005269863.1:p.Gly208=
WASH complex subunit FAM21A isoform X3 XP_005269864.1:p.Gly208= XP_005269864.1:p.Gly208=
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#.

1 Frequency submission
No Submitter Submission ID Date (Build)
1 ALFA NC_000010.11 - 50080871 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
4429054185 NC_000010.11:50080870:A:G NC_000010.11:50080870: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 rs1485033879

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