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rs786200954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786200954(-;-)
Make rs786200954(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome18
Position58723089
GeneMALT1
is asnp
is mentioned by
dbSNPrs786200954
dbSNP (classic)rs786200954
ClinGenrs786200954
ebirs786200954
HLIrs786200954
Exacrs786200954
Gnomadrs786200954
Varsomers786200954
LitVarrs786200954
Maprs786200954
PheGenIrs786200954
Biobankrs786200954
1000 genomesrs786200954
hgdprs786200954
ensemblrs786200954
geneviewrs786200954
scholarrs786200954
googlers786200954
pharmgkbrs786200954
gwascentralrs786200954
openSNPrs786200954
23andMers786200954
SNPshotrs786200954
SNPdbers786200954
MSV3drs786200954
GWAS Ctlgrs786200954
Max Magnitude0
ClinVar
Risk rs786200954(-;-)
Alt rs786200954(-;-)
Reference Rs786200954(C;C)
Significance Pathogenic
Disease Combined immunodeficiency
Variation info
Gene MALT1
CLNDBN Combined immunodeficiency
Reversed 0
HGVS NC_000018.9:g.56390321delC
CLNSRC
CLNACC RCV000169692.2,