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rs121434450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434450(C;T)
Make rs121434450(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position22115744
GeneHR
is asnp
is mentioned by
dbSNPrs121434450
ebirs121434450
HLIrs121434450
Exacrs121434450
Varsomers121434450
Maprs121434450
PheGenIrs121434450
hapmaprs121434450
1000 genomesrs121434450
hgdprs121434450
ensemblrs121434450
gopubmedrs121434450
geneviewrs121434450
scholarrs121434450
googlers121434450
pharmgkbrs121434450
gwascentralrs121434450
openSNPrs121434450
23andMers121434450
23andMe allrs121434450
SNP Nexus

SNPshotrs121434450
SNPdbers121434450
MSV3drs121434450
GWAS Ctlgrs121434450
Max Magnitude0
OMIM602302
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121434450(T;T)
Alt rs121434450(T;T)
Reference rs121434450(C;C)
Significance Pathogenic
Disease Atrichia with papular lesions
Variation info
Gene HR
CLNDBN Atrichia with papular lesions
Reversed 1
HGVS NC_000008.10:g.21973257G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007764.3,