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rs368060

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs368060(C;G)
Make rs368060(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position155205008
GeneGBA
is asnp
is mentioned by
dbSNPrs368060
ebirs368060
HLIrs368060
Exacrs368060
Varsomers368060
Maprs368060
PheGenIrs368060
hapmaprs368060
1000 genomesrs368060
hgdprs368060
ensemblrs368060
gopubmedrs368060
geneviewrs368060
scholarrs368060
googlers368060
pharmgkbrs368060
gwascentralrs368060
openSNPrs368060
23andMers368060
23andMe allrs368060
SNP Nexus

SNPshotrs368060
SNPdbers368060
MSV3drs368060
GWAS Ctlgrs368060
Max Magnitude0
? (C;C) (C;G) (G;G) 28
OMIM606463
Desc
Variant0009
Relatedalso
ClinVar
Risk rs368060(G;G)
Alt rs368060(G;G)
Reference rs368060(C;C)
Significance Pathogenic
Disease Gaucher's disease Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease not specified
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease, perinatal lethal not specified
Reversed 0
HGVS NC_000001.10:g.155205008C>G
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004533.4, RCV000004534.4, RCV000004535.4, RCV000004536.4, RCV000079341.4,