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rs6058017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs6058017(A;G)
Make rs6058017(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position34269192
GeneAHCY, ASIP
is asnp
is mentioned by
dbSNPrs6058017
dbSNP (classic)rs6058017
ClinGenrs6058017
ebirs6058017
HLIrs6058017
Exacrs6058017
Gnomadrs6058017
Varsomers6058017
LitVarrs6058017
Maprs6058017
PheGenIrs6058017
Biobankrs6058017
1000 genomesrs6058017
hgdprs6058017
ensemblrs6058017
geneviewrs6058017
scholarrs6058017
googlers6058017
pharmgkbrs6058017
gwascentralrs6058017
openSNPrs6058017
23andMers6058017
SNPshotrs6058017
SNPdbers6058017
MSV3drs6058017
GWAS Ctlgrs6058017
GMAF0.2893
Max Magnitude0

Influences appearance gnxp

OMIM611742
DescSKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9; SHEP9
Variant
Relatedalso
OMIM600201
DescAGOUTI SIGNALING PROTEIN; ASIP
Variant
Relatedalso
OMIM600201
Desc
Variant0001
Relatedalso


[PMID 17999355OA-icon.png] A genomewide association study of skin pigmentation in a South Asian population.


[PMID 19384953OA-icon.png] Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.


[PMID 19995372OA-icon.png] 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,