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rs193922703

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922703(A;A)
Make rs193922703(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position8605391
GeneAICDA
is asnp
is mentioned by
dbSNPrs193922703
ebirs193922703
HLIrs193922703
Exacrs193922703
Varsomers193922703
Maprs193922703
PheGenIrs193922703
hapmaprs193922703
1000 genomesrs193922703
hgdprs193922703
ensemblrs193922703
gopubmedrs193922703
geneviewrs193922703
scholarrs193922703
googlers193922703
pharmgkbrs193922703
gwascentralrs193922703
openSNPrs193922703
23andMers193922703
23andMe allrs193922703
SNP Nexus

SNPshotrs193922703
SNPdbers193922703
MSV3drs193922703
GWAS Ctlgrs193922703
Max Magnitude0
ClinVar
Risk rs193922703(A;A)
Alt rs193922703(A;A)
Reference rs193922703(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.8757987C>T
CLNSRC ClinVar
CLNACC RCV000029303.1,