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rs267607219

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs267607219(C;C)
Make rs267607219(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position185534860
GeneLIPH
is asnp
is mentioned by
dbSNPrs267607219
ebirs267607219
HLIrs267607219
Exacrs267607219
Varsomers267607219
Maprs267607219
PheGenIrs267607219
hapmaprs267607219
1000 genomesrs267607219
hgdprs267607219
ensemblrs267607219
gopubmedrs267607219
geneviewrs267607219
scholarrs267607219
googlers267607219
pharmgkbrs267607219
gwascentralrs267607219
openSNPrs267607219
23andMers267607219
23andMe allrs267607219
SNP Nexus

SNPshotrs267607219
SNPdbers267607219
MSV3drs267607219
GWAS Ctlgrs267607219
Max Magnitude0
ClinVar
Risk rs267607219(C;C)
Alt rs267607219(C;C)
Reference rs267607219(T;T)
Significance Pathogenic
Disease Woolly hair
Variation info
Gene LIPH
CLNDBN Woolly hair, autosomal recessive 2, with or without hypotrichosis
Reversed 1
HGVS NC_000003.11:g.185252648A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000003468.2,