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.
rs1486943613
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr10:45727502 (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
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.000004 (1/264690, TOPMED)A=0.000005 (1/217864, GnomAD_exome)A=0.000014 (2/140292, GnomAD) (+ 1 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
WASHC2C : Missense VariantLOC107984227 : 2KB Upstream 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 | 14050 | G=1.00000 | A=0.00000 | 1.0 | 0.0 | 0.0 | N/A |
| European | Sub | 9690 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African | Sub | 2898 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | G=1.0000 | A=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | G=1.00 | A=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | G=1.000 | A=0.000 | 1.0 | 0.0 | 0.0 | N/A |
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=0.999996 | A=0.000004 |
| gnomAD - Exomes | Global | Study-wide | 217864 | G=0.999995 | A=0.000005 |
| gnomAD - Exomes | European | Sub | 114206 | G=0.999991 | A=0.000009 |
| gnomAD - Exomes | Asian | Sub | 45002 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | American | Sub | 31562 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | African | Sub | 12230 | G=1.00000 | A=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 9420 | G=1.0000 | A=0.0000 |
| gnomAD - Exomes | Other | Sub | 5444 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 140292 | G=0.999986 | A=0.000014 |
| gnomAD - Genomes | European | Sub | 75960 | G=0.99997 | A=0.00003 |
| gnomAD - Genomes | African | Sub | 42062 | G=1.00000 | A=0.00000 |
| gnomAD - Genomes | American | Sub | 13662 | G=1.00000 | A=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3130 | G=1.0000 | A=0.0000 |
| gnomAD - Genomes | Other | Sub | 2154 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | G=1.00000 | A=0.00000 |
| Allele Frequency Aggregator | European | Sub | 9690 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | African | Sub | 2898 | G=1.0000 | A=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | G=1.000 | A=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | G=1.00 | A=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.45727502G>A |
| GRCh37.p13 chr 10 | NC_000010.10:g.46222950G>A |
Gene: WASHC2C, WASH complex subunit 2C
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| WASHC2C transcript variant 17 | NM_001367409.1:c.-129= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 11 | NM_001367399.1:c.-129= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 20 | NM_001367412.1:c.-588= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 25 | NM_001367405.1:c.-605= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 24 | NM_001367402.1:c.-494= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 19 | NM_001367411.1:c.-129= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 28 | NM_001367406.1:c.-1632= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 21 | NM_001367413.1:c.-129= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 26 | NM_001367407.1:c.-594= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 27 | NM_001367414.1:c.-561= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 18 | NM_001367410.1:c.-129= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 10 | NM_001367398.1:c.-588= | N/A | 5 Prime UTR Variant |
| WASHC2C transcript variant 8 | NM_001367396.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 8 | NP_001354325.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 7 | NM_001367395.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 7 | NP_001354324.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 6 | NM_001367394.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 6 | NP_001354323.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 9 | NM_001367397.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 9 | NP_001354326.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 15 | NM_001367404.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 15 | NP_001354333.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 12 | NM_001367400.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 12 | NP_001354329.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 5 | NM_001367393.1:c.86G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 5 | NP_001354322.1:p.Arg29Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 16 | NM_001367408.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 16 | NP_001354337.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 22 | NM_001367415.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 22 | NP_001354344.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 14 | NM_001367403.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 14 | NP_001354332.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 23 | NM_001367416.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 23 | NP_001354345.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 13 | NM_001367401.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 13 | NP_001354330.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 2 | NM_001169106.2:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 2 | NP_001162577.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 3 | NM_001169107.2:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 3 | NP_001162578.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 4 | NM_001330074.2:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 4 | NP_001317003.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 1 | NM_015262.3:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform 1 | NP_056077.2:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant 29 | NR_159966.1:n.141G>A | N/A | Non Coding Transcript Variant |
| WASHC2C transcript variant X25 | XM_011539573.4:c. | N/A | Genic Upstream Transcript Variant |
| WASHC2C transcript variant X22 | XM_047424957.1:c. | N/A | Genic Upstream Transcript Variant |
| WASHC2C transcript variant X24 | XM_047424959.1:c. | N/A | Genic Upstream Transcript Variant |
| WASHC2C transcript variant X1 | XM_011539568.3:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X1 | XP_011537870.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X2 | XM_017016014.3:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X2 | XP_016871503.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X3 | XM_011539569.3:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X3 | XP_011537871.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X4 | XM_017016017.3:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X4 | XP_016871506.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X5 | XM_011539570.4:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X5 | XP_011537872.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X6 | XM_047424941.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X6 | XP_047280897.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X7 | XM_047424942.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X7 | XP_047280898.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X8 | XM_047424943.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X8 | XP_047280899.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X9 | XM_047424944.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X9 | XP_047280900.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X10 | XM_047424945.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X10 | XP_047280901.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X11 | XM_047424946.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X11 | XP_047280902.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X12 | XM_047424947.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X12 | XP_047280903.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X13 | XM_047424948.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X13 | XP_047280904.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X14 | XM_047424949.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X14 | XP_047280905.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X15 | XM_047424950.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X15 | XP_047280906.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X16 | XM_047424951.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X16 | XP_047280907.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X17 | XM_047424952.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X17 | XP_047280908.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X18 | XM_047424953.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X18 | XP_047280909.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X19 | XM_047424954.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X19 | XP_047280910.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X20 | XM_047424955.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X20 | XP_047280911.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X21 | XM_047424956.1:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X21 | XP_047280912.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
| WASHC2C transcript variant X23 | XM_011539572.3:c.89G>A | R [AGG] > K [AAG] | Coding Sequence Variant |
| WASH complex subunit 2C isoform X23 | XP_011537874.1:p.Arg30Lys | R (Arg) > K (Lys) | Missense Variant |
Gene: LOC107984227, uncharacterized LOC107984227
(minus strand)
:
2KB Upstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC107984227 transcript | XM_047426114.1:c. | N/A | Upstream 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 | G= | A |
|---|---|---|
| GRCh38.p14 chr 10 | NC_000010.11:g.45727502= | NC_000010.11:g.45727502G>A |
| GRCh37.p13 chr 10 | NC_000010.10:g.46222950= | NC_000010.10:g.46222950G>A |
| WASHC2C transcript variant X5 | XM_011539570.4:c.89= | XM_011539570.4:c.89G>A |
| WASHC2C transcript variant X8 | XM_011539570.3:c.89= | XM_011539570.3:c.89G>A |
| FAM21C transcript variant X9 | XM_011539570.2:c.89= | XM_011539570.2:c.89G>A |
| FAM21C transcript variant X5 | XM_011539570.1:c.89= | XM_011539570.1:c.89G>A |
| WASHC2C transcript variant 1 | NM_015262.3:c.89= | NM_015262.3:c.89G>A |
| WASHC2C transcript variant 1 | NM_015262.2:c.89= | NM_015262.2:c.89G>A |
| WASHC2C transcript variant X1 | XM_011539568.3:c.89= | XM_011539568.3:c.89G>A |
| WASHC2C transcript variant X2 | XM_011539568.2:c.89= | XM_011539568.2:c.89G>A |
| FAM21C transcript variant X3 | XM_011539568.1:c.89= | XM_011539568.1:c.89G>A |
| WASHC2C transcript variant X2 | XM_017016014.3:c.89= | XM_017016014.3:c.89G>A |
| WASHC2C transcript variant X3 | XM_017016014.2:c.89= | XM_017016014.2:c.89G>A |
| FAM21C transcript variant X4 | XM_017016014.1:c.89= | XM_017016014.1:c.89G>A |
| WASHC2C transcript variant X3 | XM_011539569.3:c.89= | XM_011539569.3:c.89G>A |
| WASHC2C transcript variant X6 | XM_011539569.2:c.89= | XM_011539569.2:c.89G>A |
| FAM21C transcript variant X7 | XM_011539569.1:c.89= | XM_011539569.1:c.89G>A |
| WASHC2C transcript variant X4 | XM_017016017.3:c.89= | XM_017016017.3:c.89G>A |
| WASHC2C transcript variant X7 | XM_017016017.2:c.89= | XM_017016017.2:c.89G>A |
| FAM21C transcript variant X8 | XM_017016017.1:c.89= | XM_017016017.1:c.89G>A |
| WASHC2C transcript variant X23 | XM_011539572.3:c.89= | XM_011539572.3:c.89G>A |
| WASHC2C transcript variant X17 | XM_011539572.2:c.89= | XM_011539572.2:c.89G>A |
| FAM21C transcript variant X17 | XM_011539572.1:c.89= | XM_011539572.1:c.89G>A |
| WASHC2C transcript variant 4 | NM_001330074.2:c.89= | NM_001330074.2:c.89G>A |
| WASHC2C transcript variant 4 | NM_001330074.1:c.89= | NM_001330074.1:c.89G>A |
| WASHC2C transcript variant 2 | NM_001169106.2:c.89= | NM_001169106.2:c.89G>A |
| WASHC2C transcript variant 2 | NM_001169106.1:c.89= | NM_001169106.1:c.89G>A |
| WASHC2C transcript variant 3 | NM_001169107.2:c.89= | NM_001169107.2:c.89G>A |
| WASHC2C transcript variant 3 | NM_001169107.1:c.89= | NM_001169107.1:c.89G>A |
| WASHC2C transcript variant 29 | NR_159966.1:n.141= | NR_159966.1:n.141G>A |
| WASHC2C transcript variant 20 | NM_001367412.1:c.-588= | NM_001367412.1:c.-588G>A |
| WASHC2C transcript variant 7 | NM_001367395.1:c.89= | NM_001367395.1:c.89G>A |
| WASHC2C transcript variant 25 | NM_001367405.1:c.-605= | NM_001367405.1:c.-605G>A |
| WASHC2C transcript variant 26 | NM_001367407.1:c.-594= | NM_001367407.1:c.-594G>A |
| WASHC2C transcript variant 10 | NM_001367398.1:c.-588= | NM_001367398.1:c.-588G>A |
| WASHC2C transcript variant 27 | NM_001367414.1:c.-561= | NM_001367414.1:c.-561G>A |
| WASHC2C transcript variant 5 | NM_001367393.1:c.86= | NM_001367393.1:c.86G>A |
| WASHC2C transcript variant 19 | NM_001367411.1:c.-129= | NM_001367411.1:c.-129G>A |
| WASHC2C transcript variant 24 | NM_001367402.1:c.-494= | NM_001367402.1:c.-494G>A |
| WASHC2C transcript variant 14 | NM_001367403.1:c.89= | NM_001367403.1:c.89G>A |
| WASHC2C transcript variant 17 | NM_001367409.1:c.-129= | NM_001367409.1:c.-129G>A |
| WASHC2C transcript variant 18 | NM_001367410.1:c.-129= | NM_001367410.1:c.-129G>A |
| WASHC2C transcript variant 12 | NM_001367400.1:c.89= | NM_001367400.1:c.89G>A |
| WASHC2C transcript variant 13 | NM_001367401.1:c.89= | NM_001367401.1:c.89G>A |
| WASHC2C transcript variant 15 | NM_001367404.1:c.89= | NM_001367404.1:c.89G>A |
| WASHC2C transcript variant 28 | NM_001367406.1:c.-1632= | NM_001367406.1:c.-1632G>A |
| WASHC2C transcript variant X6 | XM_047424941.1:c.89= | XM_047424941.1:c.89G>A |
| WASHC2C transcript variant X7 | XM_047424942.1:c.89= | XM_047424942.1:c.89G>A |
| WASHC2C transcript variant 16 | NM_001367408.1:c.89= | NM_001367408.1:c.89G>A |
| WASHC2C transcript variant X8 | XM_047424943.1:c.89= | XM_047424943.1:c.89G>A |
| WASHC2C transcript variant 8 | NM_001367396.1:c.89= | NM_001367396.1:c.89G>A |
| WASHC2C transcript variant 9 | NM_001367397.1:c.89= | NM_001367397.1:c.89G>A |
| WASHC2C transcript variant X9 | XM_047424944.1:c.89= | XM_047424944.1:c.89G>A |
| WASHC2C transcript variant X10 | XM_047424945.1:c.89= | XM_047424945.1:c.89G>A |
| WASHC2C transcript variant X11 | XM_047424946.1:c.89= | XM_047424946.1:c.89G>A |
| WASHC2C transcript variant 6 | NM_001367394.1:c.89= | NM_001367394.1:c.89G>A |
| WASHC2C transcript variant X12 | XM_047424947.1:c.89= | XM_047424947.1:c.89G>A |
| WASHC2C transcript variant X13 | XM_047424948.1:c.89= | XM_047424948.1:c.89G>A |
| WASHC2C transcript variant X14 | XM_047424949.1:c.89= | XM_047424949.1:c.89G>A |
| WASHC2C transcript variant 21 | NM_001367413.1:c.-129= | NM_001367413.1:c.-129G>A |
| WASHC2C transcript variant X15 | XM_047424950.1:c.89= | XM_047424950.1:c.89G>A |
| WASHC2C transcript variant X16 | XM_047424951.1:c.89= | XM_047424951.1:c.89G>A |
| WASHC2C transcript variant X17 | XM_047424952.1:c.89= | XM_047424952.1:c.89G>A |
| WASHC2C transcript variant 11 | NM_001367399.1:c.-129= | NM_001367399.1:c.-129G>A |
| WASHC2C transcript variant X18 | XM_047424953.1:c.89= | XM_047424953.1:c.89G>A |
| WASHC2C transcript variant 22 | NM_001367415.1:c.89= | NM_001367415.1:c.89G>A |
| WASHC2C transcript variant X19 | XM_047424954.1:c.89= | XM_047424954.1:c.89G>A |
| WASHC2C transcript variant X20 | XM_047424955.1:c.89= | XM_047424955.1:c.89G>A |
| WASHC2C transcript variant 23 | NM_001367416.1:c.89= | NM_001367416.1:c.89G>A |
| WASHC2C transcript variant X21 | XM_047424956.1:c.89= | XM_047424956.1:c.89G>A |
| WASH complex subunit 2C isoform X5 | XP_011537872.1:p.Arg30= | XP_011537872.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 1 | NP_056077.2:p.Arg30= | NP_056077.2:p.Arg30Lys |
| WASH complex subunit 2C isoform X1 | XP_011537870.1:p.Arg30= | XP_011537870.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X2 | XP_016871503.1:p.Arg30= | XP_016871503.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X3 | XP_011537871.1:p.Arg30= | XP_011537871.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X4 | XP_016871506.1:p.Arg30= | XP_016871506.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X23 | XP_011537874.1:p.Arg30= | XP_011537874.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 4 | NP_001317003.1:p.Arg30= | NP_001317003.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 2 | NP_001162577.1:p.Arg30= | NP_001162577.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 3 | NP_001162578.1:p.Arg30= | NP_001162578.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 7 | NP_001354324.1:p.Arg30= | NP_001354324.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 5 | NP_001354322.1:p.Arg29= | NP_001354322.1:p.Arg29Lys |
| WASH complex subunit 2C isoform 14 | NP_001354332.1:p.Arg30= | NP_001354332.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 12 | NP_001354329.1:p.Arg30= | NP_001354329.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 13 | NP_001354330.1:p.Arg30= | NP_001354330.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 15 | NP_001354333.1:p.Arg30= | NP_001354333.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X6 | XP_047280897.1:p.Arg30= | XP_047280897.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X7 | XP_047280898.1:p.Arg30= | XP_047280898.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 16 | NP_001354337.1:p.Arg30= | NP_001354337.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X8 | XP_047280899.1:p.Arg30= | XP_047280899.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 8 | NP_001354325.1:p.Arg30= | NP_001354325.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 9 | NP_001354326.1:p.Arg30= | NP_001354326.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X9 | XP_047280900.1:p.Arg30= | XP_047280900.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X10 | XP_047280901.1:p.Arg30= | XP_047280901.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X11 | XP_047280902.1:p.Arg30= | XP_047280902.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 6 | NP_001354323.1:p.Arg30= | NP_001354323.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X12 | XP_047280903.1:p.Arg30= | XP_047280903.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X13 | XP_047280904.1:p.Arg30= | XP_047280904.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X14 | XP_047280905.1:p.Arg30= | XP_047280905.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X15 | XP_047280906.1:p.Arg30= | XP_047280906.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X16 | XP_047280907.1:p.Arg30= | XP_047280907.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X17 | XP_047280908.1:p.Arg30= | XP_047280908.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X18 | XP_047280909.1:p.Arg30= | XP_047280909.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 22 | NP_001354344.1:p.Arg30= | NP_001354344.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X19 | XP_047280910.1:p.Arg30= | XP_047280910.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X20 | XP_047280911.1:p.Arg30= | XP_047280911.1:p.Arg30Lys |
| WASH complex subunit 2C isoform 23 | NP_001354345.1:p.Arg30= | NP_001354345.1:p.Arg30Lys |
| WASH complex subunit 2C isoform X21 | XP_047280912.1:p.Arg30= | XP_047280912.1:p.Arg30Lys |
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 | ss2738219255 | Nov 08, 2017 (151) |
| 2 | GNOMAD | ss2748379331 | Nov 08, 2017 (151) |
| 3 | GNOMAD | ss2888260579 | Nov 08, 2017 (151) |
| 4 | TOPMED | ss4850899546 | Apr 27, 2021 (155) |
| 5 | gnomAD - Genomes | NC_000010.11 - 45727502 | Apr 27, 2021 (155) |
| 6 | gnomAD - Exomes | NC_000010.10 - 46222950 | Jul 13, 2019 (153) |
| 7 | TopMed | NC_000010.11 - 45727502 | Apr 27, 2021 (155) |
| 8 | ALFA | NC_000010.11 - 45727502 | Apr 27, 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 |
|---|---|---|---|
| 7417490, ss2738219255, ss2748379331, ss2888260579 | NC_000010.10:46222949:G:A | NC_000010.11:45727501:G:A | (self) |
| 350857320, 66445201, 10880583203, ss4850899546 | NC_000010.11:45727501:G:A | NC_000010.11:45727501: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 rs1486943613
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
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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.
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.