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rs879253749

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs879253749(G;T)
Make rs879253749(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position40751284
GeneKRT25
is asnp
is mentioned by
dbSNPrs879253749
dbSNP (classic)rs879253749
ClinGenrs879253749
ebirs879253749
HLIrs879253749
Exacrs879253749
Gnomadrs879253749
Varsomers879253749
LitVarrs879253749
Maprs879253749
PheGenIrs879253749
Biobankrs879253749
1000 genomesrs879253749
hgdprs879253749
ensemblrs879253749
geneviewrs879253749
scholarrs879253749
googlers879253749
pharmgkbrs879253749
gwascentralrs879253749
openSNPrs879253749
23andMers879253749
SNPshotrs879253749
SNPdbers879253749
MSV3drs879253749
GWAS Ctlgrs879253749
Max Magnitude0
ClinVar
Risk rs879253749(T;T)
Alt rs879253749(T;T)
Reference Rs879253749(G;G)
Significance Pathogenic
Disease Autosomal Recessive Hypotrichosis with Woolly Hair Autosomal recessive woolly hair 3
Variation info
Gene KRT25
CLNDBN Autosomal Recessive Hypotrichosis with Woolly Hair Autosomal recessive woolly hair 3
Reversed 1
HGVS NC_000017.10:g.38907536C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000234939.1, RCV000490551.1,