rs6058017
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs6058017(A;G) |
Make rs6058017(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 34269192 |
Gene | AHCY, ASIP |
is a | snp |
is | mentioned by |
dbSNP | rs6058017 |
dbSNP (classic) | rs6058017 |
ClinGen | rs6058017 |
ebi | rs6058017 |
HLI | rs6058017 |
Exac | rs6058017 |
Gnomad | rs6058017 |
Varsome | rs6058017 |
LitVar | rs6058017 |
Map | rs6058017 |
PheGenI | rs6058017 |
Biobank | rs6058017 |
1000 genomes | rs6058017 |
hgdp | rs6058017 |
ensembl | rs6058017 |
geneview | rs6058017 |
scholar | rs6058017 |
rs6058017 | |
pharmgkb | rs6058017 |
gwascentral | rs6058017 |
openSNP | rs6058017 |
23andMe | rs6058017 |
SNPshot | rs6058017 |
SNPdbe | rs6058017 |
MSV3d | rs6058017 |
GWAS Ctlg | rs6058017 |
GMAF | 0.2893 |
Max Magnitude | 0 |
Influences appearance gnxp
[PMID 17999355] A genomewide association study of skin pigmentation in a South Asian population.
[PMID 19384953] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
[PMID 19995372] Melanoma susceptibility variants on chromosome 20q11.22 are associated with pigmentary traits and the risk of nonmelanoma skin cancer.
ClinVar | |
---|---|
Risk | rs6058017(G;G) |
Alt | rs6058017(G;G) |
Reference | Rs6058017(A;A) |
Significance | Other |
Disease | Skin/hair/eye pigmentation |
Variation | info |
Gene | ASIP |
CLNDBN | Skin/hair/eye pigmentation, variation in, 9 |
Reversed | 0 |
HGVS | NC_000020.10:g.32856998A>G |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009892.5, |