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rs121434448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434448(A;A)
Make rs121434448(A;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position22116400
GeneHR
is asnp
is mentioned by
dbSNPrs121434448
ClinGenrs121434448
ebirs121434448
HLIrs121434448
Exacrs121434448
Varsomers121434448
Maprs121434448
PheGenIrs121434448
hapmaprs121434448
1000 genomesrs121434448
hgdprs121434448
ensemblrs121434448
gopubmedrs121434448
geneviewrs121434448
scholarrs121434448
googlers121434448
pharmgkbrs121434448
gwascentralrs121434448
openSNPrs121434448
23andMers121434448
23andMe allrs121434448
SNP Nexus

SNPshotrs121434448
SNPdbers121434448
MSV3drs121434448
GWAS Ctlgrs121434448
Max Magnitude0
OMIM602302
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434448(A;A)
Alt rs121434448(A;A)
Reference Rs121434448(T;T)
Significance Pathogenic
Disease Alopecia universalis congenita
Variation info
Gene HR
CLNDBN Alopecia universalis congenita
Reversed 1
HGVS NC_000008.10:g.21973913A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007756.5,