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rs121434307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121434307(A;T)
Make rs121434307(T;T)
ReferenceGRCh38 38.1/141
Chromosome13
Position48411862
GeneLPAR6, RB1
is asnp
is mentioned by
dbSNPrs121434307
ebirs121434307
HLIrs121434307
Exacrs121434307
Varsomers121434307
Maprs121434307
PheGenIrs121434307
hapmaprs121434307
1000 genomesrs121434307
hgdprs121434307
ensemblrs121434307
gopubmedrs121434307
geneviewrs121434307
scholarrs121434307
googlers121434307
pharmgkbrs121434307
gwascentralrs121434307
openSNPrs121434307
23andMers121434307
23andMe allrs121434307
SNP Nexus

SNPshotrs121434307
SNPdbers121434307
MSV3drs121434307
GWAS Ctlgrs121434307
Max Magnitude0
OMIM609239
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434307(T;T)
Alt rs121434307(T;T)
Reference rs121434307(A;A)
Significance Pathogenic
Disease Autosomal recessive woolly hair 1
Variation info
Gene RB1 LPAR6
CLNDBN Autosomal recessive woolly hair 1, with or without hypotrichosis
Reversed 1
HGVS NC_000013.10:g.48985998T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001901.2,