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rs121913664

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913664(A;A)
Make rs121913664(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position35404613
GeneNFKBIA
is asnp
is mentioned by
dbSNPrs121913664
ebirs121913664
HLIrs121913664
Exacrs121913664
Varsomers121913664
Maprs121913664
PheGenIrs121913664
hapmaprs121913664
1000 genomesrs121913664
hgdprs121913664
ensemblrs121913664
gopubmedrs121913664
geneviewrs121913664
scholarrs121913664
googlers121913664
pharmgkbrs121913664
gwascentralrs121913664
openSNPrs121913664
23andMers121913664
23andMe allrs121913664
SNP Nexus

SNPshotrs121913664
SNPdbers121913664
MSV3drs121913664
GWAS Ctlgrs121913664
Max Magnitude0
OMIM164008
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913664(A;A)
Alt rs121913664(A;A)
Reference rs121913664(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.35873819C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000015041.25,