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rs104894327

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894327(C;C)
Make rs104894327(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position8604898
GeneAICDA
is asnp
is mentioned by
dbSNPrs104894327
ebirs104894327
HLIrs104894327
Exacrs104894327
Varsomers104894327
Maprs104894327
PheGenIrs104894327
hapmaprs104894327
1000 genomesrs104894327
hgdprs104894327
ensemblrs104894327
gopubmedrs104894327
geneviewrs104894327
scholarrs104894327
googlers104894327
pharmgkbrs104894327
gwascentralrs104894327
openSNPrs104894327
23andMers104894327
23andMe allrs104894327
SNP Nexus

SNPshotrs104894327
SNPdbers104894327
MSV3drs104894327
GWAS Ctlgrs104894327
Max Magnitude0
OMIM605257
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894327(C;C)
Alt rs104894327(C;C)
Reference rs104894327(T;T)
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.8757494A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005435.3,