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rs267607205

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607205(C;G)
Make rs267607205(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position52573334
GeneKRT74
is asnp
is mentioned by
dbSNPrs267607205
dbSNP (classic)rs267607205
ClinGenrs267607205
ebirs267607205
HLIrs267607205
Exacrs267607205
Gnomadrs267607205
Varsomers267607205
LitVarrs267607205
Maprs267607205
PheGenIrs267607205
Biobankrs267607205
1000 genomesrs267607205
hgdprs267607205
ensemblrs267607205
geneviewrs267607205
scholarrs267607205
googlers267607205
pharmgkbrs267607205
gwascentralrs267607205
openSNPrs267607205
23andMers267607205
SNPshotrs267607205
SNPdbers267607205
MSV3drs267607205
GWAS Ctlgrs267607205
Max Magnitude0
ClinVar
Risk rs267607205(G;G) rs267607205(T;T)
Alt rs267607205(G;G) rs267607205(T;T)
Reference Rs267607205(C;C)
Significance Pathogenic
Disease Woolly hair not provided
Variation info
Gene KRT74
CLNDBN Woolly hair, autosomal dominant not provided
Reversed 1
HGVS NC_000012.11:g.52967118G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000002564.4, RCV000057503.1,