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rs193922704

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922704(A;A)
Make rs193922704(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position8605268
GeneAICDA
is asnp
is mentioned by
dbSNPrs193922704
ebirs193922704
HLIrs193922704
Exacrs193922704
Varsomers193922704
Maprs193922704
PheGenIrs193922704
hapmaprs193922704
1000 genomesrs193922704
hgdprs193922704
ensemblrs193922704
gopubmedrs193922704
geneviewrs193922704
scholarrs193922704
googlers193922704
pharmgkbrs193922704
gwascentralrs193922704
openSNPrs193922704
23andMers193922704
23andMe allrs193922704
SNP Nexus

SNPshotrs193922704
SNPdbers193922704
MSV3drs193922704
GWAS Ctlgrs193922704
Max Magnitude0
ClinVar
Risk rs193922704(A;A)
Alt rs193922704(A;A)
Reference rs193922704(G;G)
Significance Probable-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.8757864C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029304.1,


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