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rs104894322

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894322(A;G)
Make rs104894322(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position8605227
GeneAICDA
is asnp
is mentioned by
dbSNPrs104894322
ebirs104894322
HLIrs104894322
Exacrs104894322
Varsomers104894322
Maprs104894322
PheGenIrs104894322
hapmaprs104894322
1000 genomesrs104894322
hgdprs104894322
ensemblrs104894322
gopubmedrs104894322
geneviewrs104894322
scholarrs104894322
googlers104894322
pharmgkbrs104894322
gwascentralrs104894322
openSNPrs104894322
23andMers104894322
23andMe allrs104894322
SNP Nexus

SNPshotrs104894322
SNPdbers104894322
MSV3drs104894322
GWAS Ctlgrs104894322
Max Magnitude0
OMIM605257
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894322(G;G)
Alt rs104894322(G;G)
Reference rs104894322(A;A)
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.8757823T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000005433.3,