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rs104894320

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894320(C;C)
Make rs104894320(C;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position8605404
GeneAICDA
is asnp
is mentioned by
dbSNPrs104894320
ebirs104894320
HLIrs104894320
Exacrs104894320
Varsomers104894320
Maprs104894320
PheGenIrs104894320
hapmaprs104894320
1000 genomesrs104894320
hgdprs104894320
ensemblrs104894320
gopubmedrs104894320
geneviewrs104894320
scholarrs104894320
googlers104894320
pharmgkbrs104894320
gwascentralrs104894320
openSNPrs104894320
23andMers104894320
23andMe allrs104894320
SNP Nexus

SNPshotrs104894320
SNPdbers104894320
MSV3drs104894320
GWAS Ctlgrs104894320
Max Magnitude0
OMIM605257
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894320(C;C)
Alt rs104894320(C;C)
Reference rs104894320(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.8758000A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005431.3,