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rs104894323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894323(A;A)
Make rs104894323(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position8604909
GeneAICDA
is asnp
is mentioned by
dbSNPrs104894323
ebirs104894323
HLIrs104894323
Exacrs104894323
Varsomers104894323
Maprs104894323
PheGenIrs104894323
hapmaprs104894323
1000 genomesrs104894323
hgdprs104894323
ensemblrs104894323
gopubmedrs104894323
geneviewrs104894323
scholarrs104894323
googlers104894323
pharmgkbrs104894323
gwascentralrs104894323
openSNPrs104894323
23andMers104894323
23andMe allrs104894323
SNP Nexus

SNPshotrs104894323
SNPdbers104894323
MSV3drs104894323
GWAS Ctlgrs104894323
Max Magnitude0
OMIM605257
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894323(A;A)
Alt rs104894323(A;A)
Reference rs104894323(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.8757505G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005434.3,