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rs121908311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs121908311(A;A)
Make rs121908311(A;G)
ReferenceGRCh37 37.1/132
Chromosome1
Position155205614
GeneGBA
is asnp
is mentioned by
dbSNPrs121908311
ebirs121908311
HLIrs121908311
Exacrs121908311
Varsomers121908311
Maprs121908311
PheGenIrs121908311
hapmaprs121908311
1000 genomesrs121908311
hgdprs121908311
ensemblrs121908311
gopubmedrs121908311
geneviewrs121908311
scholarrs121908311
googlers121908311
pharmgkbrs121908311
gwascentralrs121908311
openSNPrs121908311
23andMers121908311
23andMe allrs121908311
SNP Nexus

SNPshotrs121908311
SNPdbers121908311
MSV3drs121908311
GWAS Ctlgrs121908311
Max Magnitude0
OMIM606463
Desc
Variant0040
Relatedalso
ClinVar
Risk rs121908311(A;A)
Alt rs121908311(A;A)
Reference rs121908311(G;G)
Significance Pathogenic
Disease Gaucher's disease Subacute neuronopathic Gaucher's disease Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Subacute neuronopathic Gaucher's disease Gaucher disease
Reversed 1
HGVS NC_000001.10:g.155205614C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004571.2, RCV000004572.2, RCV000055772.3,