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rs104894324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894324(C;T)
Make rs104894324(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position8606951
GeneAICDA
is asnp
is mentioned by
dbSNPrs104894324
ebirs104894324
HLIrs104894324
Exacrs104894324
Varsomers104894324
Maprs104894324
PheGenIrs104894324
hapmaprs104894324
1000 genomesrs104894324
hgdprs104894324
ensemblrs104894324
gopubmedrs104894324
geneviewrs104894324
scholarrs104894324
googlers104894324
pharmgkbrs104894324
gwascentralrs104894324
openSNPrs104894324
23andMers104894324
23andMe allrs104894324
SNP Nexus

SNPshotrs104894324
SNPdbers104894324
MSV3drs104894324
GWAS Ctlgrs104894324
Max Magnitude0
OMIM605257
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894324(T;T)
Alt rs104894324(T;T)
Reference rs104894324(C;C)
Significance Pathogenic
Disease Immunodeficiency with hyper IgM type 2
Variation info
Gene AICDA
CLNDBN Immunodeficiency with hyper IgM type 2
Reversed 1
HGVS NC_000012.11:g.8759547G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005429.3,