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.
rs1372393955
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr14:102140103 (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
- C>G
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
G=0.000004 (1/264690, TOPMED)G=0.000004 (1/250460, GnomAD_exome)G=0.000007 (1/140292, GnomAD) (+ 1 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
WDR20 : Synonymous VariantHSP90AA1 : 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 | C=0.99993 | G=0.00007 | 0.999858 | 0.0 | 0.000142 | 0 |
| European | Sub | 9690 | C=0.9999 | G=0.0001 | 0.999794 | 0.0 | 0.000206 | 0 |
| African | Sub | 2898 | C=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| African Others | Sub | 114 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| African American | Sub | 2784 | C=1.0000 | G=0.0000 | 1.0 | 0.0 | 0.0 | N/A |
| Asian | Sub | 112 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| East Asian | Sub | 86 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other Asian | Sub | 26 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 1 | Sub | 146 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| Latin American 2 | Sub | 610 | C=1.000 | G=0.000 | 1.0 | 0.0 | 0.0 | N/A |
| South Asian | Sub | 98 | C=1.00 | G=0.00 | 1.0 | 0.0 | 0.0 | N/A |
| Other | Sub | 496 | C=1.000 | G=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 | C=0.999996 | G=0.000004 |
| gnomAD - Exomes | Global | Study-wide | 250460 | C=0.999996 | G=0.000004 |
| gnomAD - Exomes | European | Sub | 134690 | C=0.999993 | G=0.000007 |
| gnomAD - Exomes | Asian | Sub | 48990 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | American | Sub | 34584 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | African | Sub | 16052 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10044 | C=1.00000 | G=0.00000 |
| gnomAD - Exomes | Other | Sub | 6100 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | Global | Study-wide | 140292 | C=0.999993 | G=0.000007 |
| gnomAD - Genomes | European | Sub | 75962 | C=0.99999 | G=0.00001 |
| gnomAD - Genomes | African | Sub | 42054 | C=1.00000 | G=0.00000 |
| gnomAD - Genomes | American | Sub | 13668 | C=1.00000 | G=0.00000 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | East Asian | Sub | 3130 | C=1.0000 | G=0.0000 |
| gnomAD - Genomes | Other | Sub | 2154 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Total | Global | 14050 | C=0.99993 | G=0.00007 |
| Allele Frequency Aggregator | European | Sub | 9690 | C=0.9999 | G=0.0001 |
| Allele Frequency Aggregator | African | Sub | 2898 | C=1.0000 | G=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 610 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Other | Sub | 496 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 146 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | Asian | Sub | 112 | C=1.000 | G=0.000 |
| Allele Frequency Aggregator | South Asian | Sub | 98 | C=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 14 | NC_000014.9:g.102140103C>G |
| GRCh37.p13 chr 14 | NC_000014.8:g.102606440C>G |
Gene: WDR20, WD repeat domain 20
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| WDR20 transcript variant 18 |
NM_001353662.2:c.-271+374… NM_001353662.2:c.-271+374C>G |
N/A | Intron Variant |
| WDR20 transcript variant 19 |
NM_001353663.2:c.-323+116… NM_001353663.2:c.-323+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant 20 |
NM_001353664.2:c.-271+116… NM_001353664.2:c.-271+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant 21 |
NM_001353665.2:c.-88+116C… NM_001353665.2:c.-88+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant 22 |
NM_001353666.2:c.-364+116… NM_001353666.2:c.-364+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant 23 |
NM_001353667.2:c.-416+116… NM_001353667.2:c.-416+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant 24 |
NM_001353668.2:c.-271+374… NM_001353668.2:c.-271+374C>G |
N/A | Intron Variant |
| WDR20 transcript variant 26 |
NM_001353670.2:c.-364+374… NM_001353670.2:c.-364+374C>G |
N/A | Intron Variant |
| WDR20 transcript variant 27 |
NM_001353671.2:c.-88+116C… NM_001353671.2:c.-88+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant 28 |
NM_001353672.2:c.-364+116… NM_001353672.2:c.-364+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant 29 |
NM_001353673.2:c.-416+116… NM_001353673.2:c.-416+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant 30 |
NM_001353674.2:c.-271+116… NM_001353674.2:c.-271+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant 34 |
NM_001353678.2:c.-264+116… NM_001353678.2:c.-264+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant 31 | NM_001353675.2:c.-333= | N/A | 5 Prime UTR Variant |
| WDR20 transcript variant 14 | NM_001353658.2:c.-23= | N/A | 5 Prime UTR Variant |
| WDR20 transcript variant 32 | NM_001353676.2:c.-333= | N/A | 5 Prime UTR Variant |
| WDR20 transcript variant 25 | NM_001353669.2:c.-340= | N/A | 5 Prime UTR Variant |
| WDR20 transcript variant 33 | NM_001353677.2:c.-426= | N/A | 5 Prime UTR Variant |
| WDR20 transcript variant 17 | NM_001353661.2:c.-245= | N/A | 5 Prime UTR Variant |
| WDR20 transcript variant 16 | NM_001353660.2:c.-23= | N/A | 5 Prime UTR Variant |
| WDR20 transcript variant 1 | NM_181291.3:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 1 | NP_851808.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 5 | NM_001242415.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 5 | NP_001229344.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 36 | NM_001353680.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 24 | NP_001340609.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 7 | NM_001242417.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 7 | NP_001229346.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 6 | NM_001242416.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 6 | NP_001229345.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 4 | NM_001242414.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 4 | NP_001229343.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 8 | NM_001242418.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 8 | NP_001229347.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 3 | NM_181308.3:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 3 | NP_851825.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 10 | NM_001320130.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 10 | NP_001307059.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 12 | NM_001353656.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 12 | NP_001340585.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 35 | NM_001353679.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 23 | NP_001340608.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 37 | NM_001353681.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 4 | NP_001340610.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 13 | NM_001353657.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 13 | NP_001340586.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 15 | NM_001353659.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 15 | NP_001340588.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 2 | NM_144574.4:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 2 | NP_653175.2:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 11 | NM_001330228.3:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform 11 | NP_001317157.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant 9 | NR_038354.2:n.207C>G | N/A | Non Coding Transcript Variant |
| WDR20 transcript variant 38 | NR_148510.2:n. | N/A | Intron Variant |
| WDR20 transcript variant 39 | NR_148511.2:n. | N/A | Intron Variant |
| WDR20 transcript variant X20 |
XM_024449742.2:c.-271+374… XM_024449742.2:c.-271+374C>G |
N/A | Intron Variant |
| WDR20 transcript variant X22 |
XM_024449743.2:c.-364+374… XM_024449743.2:c.-364+374C>G |
N/A | Intron Variant |
| WDR20 transcript variant X21 |
XM_047431928.1:c.-101+116… XM_047431928.1:c.-101+116C>G |
N/A | Intron Variant |
| WDR20 transcript variant X11 | XM_011537343.2:c.-23= | N/A | 5 Prime UTR Variant |
| WDR20 transcript variant X12 | XM_011537344.4:c.-23= | N/A | 5 Prime UTR Variant |
| WDR20 transcript variant X17 | XM_011537345.3:c.-23= | N/A | 5 Prime UTR Variant |
| WDR20 transcript variant X18 | XM_006720310.2:c. | N/A | Genic Upstream Transcript Variant |
| WDR20 transcript variant X19 | XM_011537346.2:c. | N/A | Genic Upstream Transcript Variant |
| WDR20 transcript variant X15 | XM_047431926.1:c. | N/A | Genic Upstream Transcript Variant |
| WDR20 transcript variant X16 | XM_047431927.1:c. | N/A | Genic Upstream Transcript Variant |
| WDR20 transcript variant X1 | XM_011537335.3:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X1 | XP_011535637.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X2 | XM_011537336.3:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X2 | XP_011535638.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X3 | XM_011537337.3:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X3 | XP_011535639.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X4 | XM_011537338.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X4 | XP_011535640.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X5 | XM_011537339.3:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X5 | XP_011535641.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X6 | XM_017021785.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X6 | XP_016877274.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X7 | XM_011537340.4:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X7 | XP_011535642.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X8 | XM_011537341.3:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X8 | XP_011535643.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X9 | XM_047431924.1:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X9 | XP_047287880.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X10 | XM_017021767.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X10 | XP_016877256.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X13 | XM_006720308.2:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X13 | XP_006720371.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X14 | XM_047431925.1:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X14 | XP_047287881.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X23 | XM_047431929.1:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X19 | XP_047287885.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X24 | XM_047431930.1:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X20 | XP_047287886.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X25 | XM_011537352.4:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X21 | XP_011535654.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X26 | XM_011537353.4:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X22 | XP_011535655.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X27 | XM_047431931.1:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X23 | XP_047287887.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X28 | XM_047431932.1:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X24 | XP_047287888.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X29 | XM_011537356.4:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X25 | XP_011535658.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
| WDR20 transcript variant X30 | XM_047431933.1:c.180C>G | G [GGC] > G [GGG] | Coding Sequence Variant |
| WD repeat-containing protein 20 isoform X26 | XP_047287889.1:p.Gly60= | G (Gly) > G (Gly) | Synonymous Variant |
Gene: HSP90AA1, heat shock protein 90 alpha family class A member 1
(minus strand)
:
2KB Upstream Variant
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| HSP90AA1 transcript variant 1 | NM_001017963.3:c. | N/A | Upstream Transcript Variant |
| HSP90AA1 transcript variant 2 | NM_005348.4:c. | N/A | N/A |
| HSP90AA1 transcript variant X1 | XM_011536718.3: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 | C= | G |
|---|---|---|
| GRCh38.p14 chr 14 | NC_000014.9:g.102140103= | NC_000014.9:g.102140103C>G |
| GRCh37.p13 chr 14 | NC_000014.8:g.102606440= | NC_000014.8:g.102606440C>G |
| WDR20 transcript variant 2 | NM_144574.4:c.180= | NM_144574.4:c.180C>G |
| WDR20 transcript variant 2 | NM_144574.3:c.180= | NM_144574.3:c.180C>G |
| WDR20 transcript variant X26 | XM_011537353.4:c.180= | XM_011537353.4:c.180C>G |
| WDR20 transcript variant X25 | XM_011537353.3:c.180= | XM_011537353.3:c.180C>G |
| WDR20 transcript variant X35 | XM_011537353.2:c.180= | XM_011537353.2:c.180C>G |
| WDR20 transcript variant X24 | XM_011537353.1:c.180= | XM_011537353.1:c.180C>G |
| WDR20 transcript variant X7 | XM_011537340.4:c.180= | XM_011537340.4:c.180C>G |
| WDR20 transcript variant X6 | XM_011537340.3:c.180= | XM_011537340.3:c.180C>G |
| WDR20 transcript variant X6 | XM_011537340.2:c.180= | XM_011537340.2:c.180C>G |
| WDR20 transcript variant X6 | XM_011537340.1:c.180= | XM_011537340.1:c.180C>G |
| WDR20 transcript variant X12 | XM_011537344.4:c.-23= | XM_011537344.4:c.-23C>G |
| WDR20 transcript variant X10 | XM_011537344.3:c.-23= | XM_011537344.3:c.-23C>G |
| WDR20 transcript variant X13 | XM_011537344.2:c.-23= | XM_011537344.2:c.-23C>G |
| WDR20 transcript variant X10 | XM_011537344.1:c.-23= | XM_011537344.1:c.-23C>G |
| WDR20 transcript variant X25 | XM_011537352.4:c.180= | XM_011537352.4:c.180C>G |
| WDR20 transcript variant X24 | XM_011537352.3:c.180= | XM_011537352.3:c.180C>G |
| WDR20 transcript variant X34 | XM_011537352.2:c.180= | XM_011537352.2:c.180C>G |
| WDR20 transcript variant X23 | XM_011537352.1:c.180= | XM_011537352.1:c.180C>G |
| WDR20 transcript variant X29 | XM_011537356.4:c.180= | XM_011537356.4:c.180C>G |
| WDR20 transcript variant X26 | XM_011537356.3:c.180= | XM_011537356.3:c.180C>G |
| WDR20 transcript variant X38 | XM_011537356.2:c.180= | XM_011537356.2:c.180C>G |
| WDR20 transcript variant X27 | XM_011537356.1:c.180= | XM_011537356.1:c.180C>G |
| WDR20 transcript variant X2 | XM_011537336.3:c.180= | XM_011537336.3:c.180C>G |
| WDR20 transcript variant X2 | XM_011537336.2:c.180= | XM_011537336.2:c.180C>G |
| WDR20 transcript variant X2 | XM_011537336.1:c.180= | XM_011537336.1:c.180C>G |
| WDR20 transcript variant X1 | XM_011537335.3:c.180= | XM_011537335.3:c.180C>G |
| WDR20 transcript variant X1 | XM_011537335.2:c.180= | XM_011537335.2:c.180C>G |
| WDR20 transcript variant X1 | XM_011537335.1:c.180= | XM_011537335.1:c.180C>G |
| WDR20 transcript variant X3 | XM_011537337.3:c.180= | XM_011537337.3:c.180C>G |
| WDR20 transcript variant X3 | XM_011537337.2:c.180= | XM_011537337.2:c.180C>G |
| WDR20 transcript variant X3 | XM_011537337.1:c.180= | XM_011537337.1:c.180C>G |
| WDR20 transcript variant 11 | NM_001330228.3:c.180= | NM_001330228.3:c.180C>G |
| WDR20 transcript variant 11 | NM_001330228.2:c.180= | NM_001330228.2:c.180C>G |
| WDR20 transcript variant 11 | NM_001330228.1:c.180= | NM_001330228.1:c.180C>G |
| WDR20 transcript variant 1 | NM_181291.3:c.180= | NM_181291.3:c.180C>G |
| WDR20 transcript variant 1 | NM_181291.2:c.180= | NM_181291.2:c.180C>G |
| WDR20 transcript variant 3 | NM_181308.3:c.180= | NM_181308.3:c.180C>G |
| WDR20 transcript variant 3 | NM_181308.2:c.180= | NM_181308.2:c.180C>G |
| WDR20 transcript variant X5 | XM_011537339.3:c.180= | XM_011537339.3:c.180C>G |
| WDR20 transcript variant X5 | XM_011537339.2:c.180= | XM_011537339.2:c.180C>G |
| WDR20 transcript variant X5 | XM_011537339.1:c.180= | XM_011537339.1:c.180C>G |
| WDR20 transcript variant X8 | XM_011537341.3:c.180= | XM_011537341.3:c.180C>G |
| WDR20 transcript variant X7 | XM_011537341.2:c.180= | XM_011537341.2:c.180C>G |
| WDR20 transcript variant X7 | XM_011537341.1:c.180= | XM_011537341.1:c.180C>G |
| WDR20 transcript variant X17 | XM_011537345.3:c.-23= | XM_011537345.3:c.-23C>G |
| WDR20 transcript variant X12 | XM_011537345.2:c.-23= | XM_011537345.2:c.-23C>G |
| WDR20 transcript variant X16 | XM_011537345.1:c.-23= | XM_011537345.1:c.-23C>G |
| WDR20 transcript variant X6 | XM_017021785.2:c.180= | XM_017021785.2:c.180C>G |
| WDR20 transcript variant X29 | XM_017021785.1:c.180= | XM_017021785.1:c.180C>G |
| WDR20 transcript variant 13 | NM_001353657.2:c.180= | NM_001353657.2:c.180C>G |
| WDR20 transcript variant 13 | NM_001353657.1:c.180= | NM_001353657.1:c.180C>G |
| WDR20 transcript variant 5 | NM_001242415.2:c.180= | NM_001242415.2:c.180C>G |
| WDR20 transcript variant 5 | NM_001242415.1:c.180= | NM_001242415.1:c.180C>G |
| WDR20 transcript variant 12 | NM_001353656.2:c.180= | NM_001353656.2:c.180C>G |
| WDR20 transcript variant 12 | NM_001353656.1:c.180= | NM_001353656.1:c.180C>G |
| WDR20 transcript variant 14 | NM_001353658.2:c.-23= | NM_001353658.2:c.-23C>G |
| WDR20 transcript variant 14 | NM_001353658.1:c.-23= | NM_001353658.1:c.-23C>G |
| WDR20 transcript variant X10 | XM_017021767.2:c.180= | XM_017021767.2:c.180C>G |
| WDR20 transcript variant X8 | XM_017021767.1:c.180= | XM_017021767.1:c.180C>G |
| WDR20 transcript variant 25 | NM_001353669.2:c.-340= | NM_001353669.2:c.-340C>G |
| WDR20 transcript variant 25 | NM_001353669.1:c.-340= | NM_001353669.1:c.-340C>G |
| WDR20 transcript variant 7 | NM_001242417.2:c.180= | NM_001242417.2:c.180C>G |
| WDR20 transcript variant 7 | NM_001242417.1:c.180= | NM_001242417.1:c.180C>G |
| WDR20 transcript variant 16 | NM_001353660.2:c.-23= | NM_001353660.2:c.-23C>G |
| WDR20 transcript variant 16 | NM_001353660.1:c.-23= | NM_001353660.1:c.-23C>G |
| WDR20 transcript variant 8 | NM_001242418.2:c.180= | NM_001242418.2:c.180C>G |
| WDR20 transcript variant 8 | NM_001242418.1:c.180= | NM_001242418.1:c.180C>G |
| WDR20 transcript variant 17 | NM_001353661.2:c.-245= | NM_001353661.2:c.-245C>G |
| WDR20 transcript variant 17 | NM_001353661.1:c.-245= | NM_001353661.1:c.-245C>G |
| WDR20 transcript variant 6 | NM_001242416.2:c.180= | NM_001242416.2:c.180C>G |
| WDR20 transcript variant 6 | NM_001242416.1:c.180= | NM_001242416.1:c.180C>G |
| WDR20 transcript variant 31 | NM_001353675.2:c.-333= | NM_001353675.2:c.-333C>G |
| WDR20 transcript variant 31 | NM_001353675.1:c.-333= | NM_001353675.1:c.-333C>G |
| WDR20 transcript variant 15 | NM_001353659.2:c.180= | NM_001353659.2:c.180C>G |
| WDR20 transcript variant 15 | NM_001353659.1:c.180= | NM_001353659.1:c.180C>G |
| WDR20 transcript variant 33 | NM_001353677.2:c.-426= | NM_001353677.2:c.-426C>G |
| WDR20 transcript variant 33 | NM_001353677.1:c.-426= | NM_001353677.1:c.-426C>G |
| WDR20 transcript variant 4 | NM_001242414.2:c.180= | NM_001242414.2:c.180C>G |
| WDR20 transcript variant 4 | NM_001242414.1:c.180= | NM_001242414.1:c.180C>G |
| WDR20 transcript variant 9 | NR_038354.2:n.207= | NR_038354.2:n.207C>G |
| WDR20 transcript variant 9 | NR_038354.1:n.252= | NR_038354.1:n.252C>G |
| WDR20 transcript variant 32 | NM_001353676.2:c.-333= | NM_001353676.2:c.-333C>G |
| WDR20 transcript variant 32 | NM_001353676.1:c.-333= | NM_001353676.1:c.-333C>G |
| WDR20 transcript variant X11 | XM_011537343.2:c.-23= | XM_011537343.2:c.-23C>G |
| WDR20 transcript variant X9 | XM_011537343.1:c.-23= | XM_011537343.1:c.-23C>G |
| WDR20 transcript variant X4 | XM_011537338.2:c.180= | XM_011537338.2:c.180C>G |
| WDR20 transcript variant X4 | XM_011537338.1:c.180= | XM_011537338.1:c.180C>G |
| WDR20 transcript variant X13 | XM_006720308.2:c.180= | XM_006720308.2:c.180C>G |
| WDR20 transcript variant X11 | XM_006720308.1:c.180= | XM_006720308.1:c.180C>G |
| WDR20 transcript variant 35 | NM_001353679.2:c.180= | NM_001353679.2:c.180C>G |
| WDR20 transcript variant 35 | NM_001353679.1:c.180= | NM_001353679.1:c.180C>G |
| WDR20 transcript variant 10 | NM_001320130.2:c.180= | NM_001320130.2:c.180C>G |
| WDR20 transcript variant 10 | NM_001320130.1:c.180= | NM_001320130.1:c.180C>G |
| WDR20 transcript variant 37 | NM_001353681.2:c.180= | NM_001353681.2:c.180C>G |
| WDR20 transcript variant 37 | NM_001353681.1:c.180= | NM_001353681.1:c.180C>G |
| WDR20 transcript variant 36 | NM_001353680.2:c.180= | NM_001353680.2:c.180C>G |
| WDR20 transcript variant 36 | NM_001353680.1:c.180= | NM_001353680.1:c.180C>G |
| WDR20 transcript variant X24 | XM_047431930.1:c.180= | XM_047431930.1:c.180C>G |
| WDR20 transcript variant X9 | XM_047431924.1:c.180= | XM_047431924.1:c.180C>G |
| WDR20 transcript variant X14 | XM_047431925.1:c.180= | XM_047431925.1:c.180C>G |
| WDR20 transcript variant 4 | NM_181302.1:c.-23= | NM_181302.1:c.-23C>G |
| WDR20 transcript variant X28 | XM_047431932.1:c.180= | XM_047431932.1:c.180C>G |
| WDR20 transcript variant X30 | XM_047431933.1:c.180= | XM_047431933.1:c.180C>G |
| WDR20 transcript variant X23 | XM_047431929.1:c.180= | XM_047431929.1:c.180C>G |
| WDR20 transcript variant X27 | XM_047431931.1:c.180= | XM_047431931.1:c.180C>G |
| WD repeat-containing protein 20 isoform 2 | NP_653175.2:p.Gly60= | NP_653175.2:p.Gly60= |
| WD repeat-containing protein 20 isoform X22 | XP_011535655.1:p.Gly60= | XP_011535655.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X7 | XP_011535642.1:p.Gly60= | XP_011535642.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X21 | XP_011535654.1:p.Gly60= | XP_011535654.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X25 | XP_011535658.1:p.Gly60= | XP_011535658.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X2 | XP_011535638.1:p.Gly60= | XP_011535638.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X1 | XP_011535637.1:p.Gly60= | XP_011535637.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X3 | XP_011535639.1:p.Gly60= | XP_011535639.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 11 | NP_001317157.1:p.Gly60= | NP_001317157.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 1 | NP_851808.1:p.Gly60= | NP_851808.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 3 | NP_851825.1:p.Gly60= | NP_851825.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X5 | XP_011535641.1:p.Gly60= | XP_011535641.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X8 | XP_011535643.1:p.Gly60= | XP_011535643.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X6 | XP_016877274.1:p.Gly60= | XP_016877274.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 13 | NP_001340586.1:p.Gly60= | NP_001340586.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 5 | NP_001229344.1:p.Gly60= | NP_001229344.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 12 | NP_001340585.1:p.Gly60= | NP_001340585.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X10 | XP_016877256.1:p.Gly60= | XP_016877256.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 7 | NP_001229346.1:p.Gly60= | NP_001229346.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 8 | NP_001229347.1:p.Gly60= | NP_001229347.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 6 | NP_001229345.1:p.Gly60= | NP_001229345.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 15 | NP_001340588.1:p.Gly60= | NP_001340588.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 4 | NP_001229343.1:p.Gly60= | NP_001229343.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X4 | XP_011535640.1:p.Gly60= | XP_011535640.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X13 | XP_006720371.1:p.Gly60= | XP_006720371.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 23 | NP_001340608.1:p.Gly60= | NP_001340608.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 10 | NP_001307059.1:p.Gly60= | NP_001307059.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 4 | NP_001340610.1:p.Gly60= | NP_001340610.1:p.Gly60= |
| WD repeat-containing protein 20 isoform 24 | NP_001340609.1:p.Gly60= | NP_001340609.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X20 | XP_047287886.1:p.Gly60= | XP_047287886.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X9 | XP_047287880.1:p.Gly60= | XP_047287880.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X14 | XP_047287881.1:p.Gly60= | XP_047287881.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X24 | XP_047287888.1:p.Gly60= | XP_047287888.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X26 | XP_047287889.1:p.Gly60= | XP_047287889.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X19 | XP_047287885.1:p.Gly60= | XP_047287885.1:p.Gly60= |
| WD repeat-containing protein 20 isoform X23 | XP_047287887.1:p.Gly60= | XP_047287887.1:p.Gly60= |
| WDR20 transcript variant 18 | NM_001353662.2:c.-271+374= | NM_001353662.2:c.-271+374C>G |
| WDR20 transcript variant 19 | NM_001353663.2:c.-323+116= | NM_001353663.2:c.-323+116C>G |
| WDR20 transcript variant 20 | NM_001353664.2:c.-271+116= | NM_001353664.2:c.-271+116C>G |
| WDR20 transcript variant 21 | NM_001353665.2:c.-88+116= | NM_001353665.2:c.-88+116C>G |
| WDR20 transcript variant 22 | NM_001353666.2:c.-364+116= | NM_001353666.2:c.-364+116C>G |
| WDR20 transcript variant 23 | NM_001353667.2:c.-416+116= | NM_001353667.2:c.-416+116C>G |
| WDR20 transcript variant 24 | NM_001353668.2:c.-271+374= | NM_001353668.2:c.-271+374C>G |
| WDR20 transcript variant 26 | NM_001353670.2:c.-364+374= | NM_001353670.2:c.-364+374C>G |
| WDR20 transcript variant 27 | NM_001353671.2:c.-88+116= | NM_001353671.2:c.-88+116C>G |
| WDR20 transcript variant 28 | NM_001353672.2:c.-364+116= | NM_001353672.2:c.-364+116C>G |
| WDR20 transcript variant 29 | NM_001353673.2:c.-416+116= | NM_001353673.2:c.-416+116C>G |
| WDR20 transcript variant 30 | NM_001353674.2:c.-271+116= | NM_001353674.2:c.-271+116C>G |
| WDR20 transcript variant 34 | NM_001353678.2:c.-264+116= | NM_001353678.2:c.-264+116C>G |
| WDR20 transcript variant X20 | XM_024449742.2:c.-271+374= | XM_024449742.2:c.-271+374C>G |
| WDR20 transcript variant X22 | XM_024449743.2:c.-364+374= | XM_024449743.2:c.-364+374C>G |
| WDR20 transcript variant X21 | XM_047431928.1:c.-101+116= | XM_047431928.1:c.-101+116C>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#.
4 SubSNP,
4 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | GNOMAD | ss2740958965 | Nov 08, 2017 (151) |
| 2 | GNOMAD | ss2749210550 | Nov 08, 2017 (151) |
| 3 | GNOMAD | ss2931758531 | Nov 08, 2017 (151) |
| 4 | TOPMED | ss4982980083 | Apr 26, 2021 (155) |
| 5 | gnomAD - Genomes | NC_000014.9 - 102140103 | Apr 26, 2021 (155) |
| 6 | gnomAD - Exomes | NC_000014.8 - 102606440 | Jul 13, 2019 (153) |
| 7 | TopMed | NC_000014.9 - 102140103 | Apr 26, 2021 (155) |
| 8 | ALFA | NC_000014.9 - 102140103 | 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 |
|---|---|---|---|
| 10218405, ss2740958965, ss2749210550, ss2931758531 | NC_000014.8:102606439:C:G | NC_000014.9:102140102:C:G | (self) |
| 461536150, 198525742, 14908293010, ss4982980083 | NC_000014.9:102140102:C:G | NC_000014.9:102140102:C: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 rs1372393955
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.