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rs28933100

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28933100(G;T)
Make rs28933100(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position35404550
GeneNFKBIA
is asnp
is mentioned by
dbSNPrs28933100
ebirs28933100
HLIrs28933100
Exacrs28933100
Varsomers28933100
Maprs28933100
PheGenIrs28933100
hapmaprs28933100
1000 genomesrs28933100
hgdprs28933100
ensemblrs28933100
gopubmedrs28933100
geneviewrs28933100
scholarrs28933100
googlers28933100
pharmgkbrs28933100
gwascentralrs28933100
openSNPrs28933100
23andMers28933100
23andMe allrs28933100
SNP Nexus

SNPshotrs28933100
SNPdbers28933100
MSV3drs28933100
GWAS Ctlgrs28933100
Max Magnitude0
OMIM164008
DescECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT
Variant0001
Relatedalso


ClinVar
Risk rs28933100(T;T)
Alt rs28933100(T;T)
Reference rs28933100(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.35873756C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000015040.25,