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rs121913665

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913665(G;T)
Make rs121913665(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position35404605
GeneNFKBIA
is asnp
is mentioned by
dbSNPrs121913665
ebirs121913665
HLIrs121913665
Exacrs121913665
Varsomers121913665
Maprs121913665
PheGenIrs121913665
hapmaprs121913665
1000 genomesrs121913665
hgdprs121913665
ensemblrs121913665
gopubmedrs121913665
geneviewrs121913665
scholarrs121913665
googlers121913665
pharmgkbrs121913665
gwascentralrs121913665
openSNPrs121913665
23andMers121913665
23andMe allrs121913665
SNP Nexus

SNPshotrs121913665
SNPdbers121913665
MSV3drs121913665
GWAS Ctlgrs121913665
Max Magnitude0
OMIM164008
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913665(T;T)
Alt rs121913665(T;T)
Reference rs121913665(G;G)
Significance Pathogenic
Disease Ectodermal dysplasia
Variation info
Gene NFKBIA
CLNDBN Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant
Reversed 1
HGVS NC_000014.8:g.35873811C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015042.21,