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rs387906315

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
(-;G) 2 unaffected carrier of Gaucher disease variant
(G;G) 8 Gaucher disease


Make rs387906315(-;-)
ReferenceGRCh37.p10 37.5/138
Chromosome1
Position155210451
GeneGBA
is asnp
is mentioned by
dbSNPrs387906315
ebirs387906315
HLIrs387906315
Exacrs387906315
Varsomers387906315
Maprs387906315
PheGenIrs387906315
hapmaprs387906315
1000 genomesrs387906315
hgdprs387906315
ensemblrs387906315
gopubmedrs387906315
geneviewrs387906315
scholarrs387906315
googlers387906315
pharmgkbrs387906315
gwascentralrs387906315
openSNPrs387906315
23andMers387906315
23andMe allrs387906315
SNP Nexus

SNPshotrs387906315
SNPdbers387906315
MSV3drs387906315
GWAS Ctlgrs387906315
Max Magnitude8

rs387906315, also known as 84GG, is a causal mutation for Gaucher's disease.

23andMe chooses to use their own name, i4000417, for this SNP.


ClinVar
Risk rs387906315(G;G)
Alt rs387906315(G;G)
Reference rs387906315(;)
Significance Pathogenic
Disease Gaucher's disease not provided
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 not provided
Reversed 1
HGVS NC_000001.10:g.155210452dupC
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000004543.4, RCV000079356.3,