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rs121434449

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434449(C;T)
Make rs121434449(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position22123727
GeneHR
is asnp
is mentioned by
dbSNPrs121434449
ebirs121434449
HLIrs121434449
Exacrs121434449
Varsomers121434449
Maprs121434449
PheGenIrs121434449
hapmaprs121434449
1000 genomesrs121434449
hgdprs121434449
ensemblrs121434449
gopubmedrs121434449
geneviewrs121434449
scholarrs121434449
googlers121434449
pharmgkbrs121434449
gwascentralrs121434449
openSNPrs121434449
23andMers121434449
23andMe allrs121434449
SNP Nexus

SNPshotrs121434449
SNPdbers121434449
MSV3drs121434449
GWAS Ctlgrs121434449
Max Magnitude0
OMIM602302
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121434449(T;T)
Alt rs121434449(T;T)
Reference rs121434449(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.21981240G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007760.3,