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rs367968666

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs367968666(A;C)
Make rs367968666(C;C)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155207249
GeneGBA
is asnp
is mentioned by
dbSNPrs367968666
ebirs367968666
HLIrs367968666
Exacrs367968666
Varsomers367968666
Maprs367968666
PheGenIrs367968666
hapmaprs367968666
1000 genomesrs367968666
hgdprs367968666
ensemblrs367968666
gopubmedrs367968666
geneviewrs367968666
scholarrs367968666
googlers367968666
pharmgkbrs367968666
gwascentralrs367968666
openSNPrs367968666
23andMers367968666
23andMe allrs367968666
SNP Nexus

SNPshotrs367968666
SNPdbers367968666
MSV3drs367968666
GWAS Ctlgrs367968666
Max Magnitude0
ClinVar
Risk rs367968666(C;C)
Alt rs367968666(C;C)
Reference rs367968666(A;A)
Significance Pathogenic
Disease Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease
Variation info
Gene GBA
CLNDBN Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease
Reversed 0
HGVS NC_000001.10:g.155207249A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004580.2, RCV000004581.2,