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rs121909130

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909130(G;T)
Make rs121909130(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52306272
GeneKRT86
is asnp
is mentioned by
dbSNPrs121909130
dbSNP (classic)rs121909130
ClinGenrs121909130
ebirs121909130
HLIrs121909130
Exacrs121909130
Gnomadrs121909130
Varsomers121909130
LitVarrs121909130
Maprs121909130
PheGenIrs121909130
Biobankrs121909130
1000 genomesrs121909130
hgdprs121909130
ensemblrs121909130
geneviewrs121909130
scholarrs121909130
googlers121909130
pharmgkbrs121909130
gwascentralrs121909130
openSNPrs121909130
23andMers121909130
SNPshotrs121909130
SNPdbers121909130
MSV3drs121909130
GWAS Ctlgrs121909130
Max Magnitude0
OMIM601928
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909130(T;T)
Alt rs121909130(T;T)
Reference Rs121909130(G;G)
Significance Pathogenic
Disease Beaded hair not provided
Variation info
Gene KRT86
CLNDBN Beaded hair not provided
Reversed 0
HGVS NC_000012.11:g.52700056G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008049.2, RCV000056960.1,