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rs786200979

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AT;AT) 0 common in clinvar
Make rs786200979(AT;GG)
Make rs786200979(GG;GG)
ReferenceGRCh38.p2 38.2/146
Chromosome1
GeneGBA
is asnp
is mentioned by
dbSNPrs786200979
ClinGenrs786200979
ebirs786200979
HLIrs786200979
Exacrs786200979
Varsomers786200979
Maprs786200979
PheGenIrs786200979
hapmaprs786200979
1000 genomesrs786200979
hgdprs786200979
ensemblrs786200979
gopubmedrs786200979
geneviewrs786200979
scholarrs786200979
googlers786200979
pharmgkbrs786200979
gwascentralrs786200979
openSNPrs786200979
23andMers786200979
23andMe allrs786200979
SNP Nexus

SNPshotrs786200979
SNPdbers786200979
MSV3drs786200979
GWAS Ctlgrs786200979
Max Magnitude0
ClinVar
Risk rs786200979(GG;GG)
Alt rs786200979(GG;GG)
Reference Rs786200979(AT;AT)
Significance Probable-Pathogenic
Disease not provided Gaucher's disease
Variation info
Gene GBA
CLNDBN not provided Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155208005_155208006delATinsCC
CLNSRC
CLNACC RCV000153310.2, RCV000179796.1,