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rs587777545

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777545(A;C)
Make rs587777545(C;C)
ReferenceGRCh38 38.1/142
Chromosome12
Position52552656
GeneKRT71
is asnp
is mentioned by
dbSNPrs587777545
dbSNP (classic)rs587777545
ClinGenrs587777545
ebirs587777545
HLIrs587777545
Exacrs587777545
Gnomadrs587777545
Varsomers587777545
LitVarrs587777545
Maprs587777545
PheGenIrs587777545
Biobankrs587777545
1000 genomesrs587777545
hgdprs587777545
ensemblrs587777545
geneviewrs587777545
scholarrs587777545
googlers587777545
pharmgkbrs587777545
gwascentralrs587777545
openSNPrs587777545
23andMers587777545
SNPshotrs587777545
SNPdbers587777545
MSV3drs587777545
GWAS Ctlgrs587777545
Max Magnitude0
ClinVar
Risk Rs587777545(A;A) rs587777545(C;C)
Alt Rs587777545(A;A) rs587777545(C;C)
Reference Rs587777545(T;T)
Significance Pathogenic
Disease Hypotrichosis 13
Variation info
Gene KRT71
CLNDBN Hypotrichosis 13
Reversed 1
HGVS NC_000012.11:g.52946440A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000128639.3,