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rs387906329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCTCTTCCT;GCTCTTCCT) 0 common in clinvar
Make rs387906329(-;-)
Make rs387906329(-;TGCTCTTCC)
Make rs387906329(TGCTCTTCC;TGCTCTTCC)
ReferenceGRCh38 38.1/141
Chromosome12
Position8605458
GeneAICDA
is asnp
is mentioned by
dbSNPrs387906329
ebirs387906329
HLIrs387906329
Exacrs387906329
Varsomers387906329
Maprs387906329
PheGenIrs387906329
hapmaprs387906329
1000 genomesrs387906329
hgdprs387906329
ensemblrs387906329
gopubmedrs387906329
geneviewrs387906329
scholarrs387906329
googlers387906329
pharmgkbrs387906329
gwascentralrs387906329
openSNPrs387906329
23andMers387906329
23andMe allrs387906329
SNP Nexus

SNPshotrs387906329
SNPdbers387906329
MSV3drs387906329
GWAS Ctlgrs387906329
Max Magnitude0
ClinVar
Risk rs387906329(;)
Alt rs387906329(;)
Reference rs387906329(GCTCTTCCT;GCTCTTCCT)
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.8758054_8758062delGGAAGAGCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005437.3,