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rs104894321

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894321(C;C)
Make rs104894321(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position8605325
GeneAICDA
is asnp
is mentioned by
dbSNPrs104894321
ebirs104894321
HLIrs104894321
Exacrs104894321
Varsomers104894321
Maprs104894321
PheGenIrs104894321
hapmaprs104894321
1000 genomesrs104894321
hgdprs104894321
ensemblrs104894321
gopubmedrs104894321
geneviewrs104894321
scholarrs104894321
googlers104894321
pharmgkbrs104894321
gwascentralrs104894321
openSNPrs104894321
23andMers104894321
23andMe allrs104894321
SNP Nexus

SNPshotrs104894321
SNPdbers104894321
MSV3drs104894321
GWAS Ctlgrs104894321
Max Magnitude0
OMIM605257
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894321(C;C)
Alt rs104894321(C;C)
Reference rs104894321(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.8757921A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005432.3,