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rs201868115

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201868115(G;T)
Make rs201868115(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position185519286
GeneLIPH
is asnp
is mentioned by
dbSNPrs201868115
ebirs201868115
HLIrs201868115
Exacrs201868115
Varsomers201868115
Maprs201868115
PheGenIrs201868115
hapmaprs201868115
1000 genomesrs201868115
hgdprs201868115
ensemblrs201868115
gopubmedrs201868115
geneviewrs201868115
scholarrs201868115
googlers201868115
pharmgkbrs201868115
gwascentralrs201868115
openSNPrs201868115
23andMers201868115
23andMe allrs201868115
SNP Nexus

SNPshotrs201868115
SNPdbers201868115
MSV3drs201868115
GWAS Ctlgrs201868115
GMAF0.0009183
Max Magnitude0
ClinVar
Risk rs201868115(T;T)
Alt rs201868115(T;T)
Reference rs201868115(G;G)
Significance Pathogenic
Disease Woolly hair
Variation info
Gene LIPH
CLNDBN Woolly hair, autosomal recessive 2, with or without hypotrichosis
Reversed 0
HGVS NC_000003.11:g.185237074G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023646.2,