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rs58751565

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs58751565(A;A)
Make rs58751565(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position52520283
GeneKRT5
is asnp
is mentioned by
dbSNPrs58751565
ebirs58751565
HLIrs58751565
Exacrs58751565
Varsomers58751565
Maprs58751565
PheGenIrs58751565
hapmaprs58751565
1000 genomesrs58751565
hgdprs58751565
ensemblrs58751565
gopubmedrs58751565
geneviewrs58751565
scholarrs58751565
googlers58751565
pharmgkbrs58751565
gwascentralrs58751565
openSNPrs58751565
23andMers58751565
23andMe allrs58751565
SNP Nexus

SNPshotrs58751565
SNPdbers58751565
MSV3drs58751565
GWAS Ctlgrs58751565
Max Magnitude0
OMIM148040
Desc
Variant0019
Relatedalso
ClinVar
Risk rs58751565(A,T;A,T)
Alt rs58751565(A,T;A,T)
Reference rs58751565(C;C)
Significance Pathogenic
Disease Dowling-Degos disease 1 not provided
Variation info
Gene KRT5
CLNDBN Dowling-Degos disease 1 not provided
Reversed 1
HGVS NC_000012.11:g.52914067G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015753.23, RCV000056572.1,