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rs104894325

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894325(A;A)
Make rs104894325(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position8605439
GeneAICDA
is asnp
is mentioned by
dbSNPrs104894325
ebirs104894325
HLIrs104894325
Exacrs104894325
Varsomers104894325
Maprs104894325
PheGenIrs104894325
hapmaprs104894325
1000 genomesrs104894325
hgdprs104894325
ensemblrs104894325
gopubmedrs104894325
geneviewrs104894325
scholarrs104894325
googlers104894325
pharmgkbrs104894325
gwascentralrs104894325
openSNPrs104894325
23andMers104894325
23andMe allrs104894325
SNP Nexus

SNPshotrs104894325
SNPdbers104894325
MSV3drs104894325
GWAS Ctlgrs104894325
Max Magnitude0
OMIM605257
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894325(A;A)
Alt rs104894325(A;A)
Reference rs104894325(G;G)
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.8758035C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000005430.3,