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rs76539814

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs76539814(C;T)
Make rs76539814(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position155206175
GeneGBA
is asnp
is mentioned by
dbSNPrs76539814
ebirs76539814
HLIrs76539814
Exacrs76539814
Varsomers76539814
Maprs76539814
PheGenIrs76539814
hapmaprs76539814
1000 genomesrs76539814
hgdprs76539814
ensemblrs76539814
gopubmedrs76539814
geneviewrs76539814
scholarrs76539814
googlers76539814
pharmgkbrs76539814
gwascentralrs76539814
openSNPrs76539814
23andMers76539814
23andMe allrs76539814
SNP Nexus

SNPshotrs76539814
SNPdbers76539814
MSV3drs76539814
GWAS Ctlgrs76539814
Max Magnitude0
OMIM606463
Desc
Variant0017
Relatedalso
ClinVar
Risk rs76539814(T;T)
Alt rs76539814(T;T)
Reference rs76539814(C;C)
Significance Pathogenic
Disease Gaucher's disease Acute neuronopathic Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1 Acute neuronopathic Gaucher's disease
Reversed 1
HGVS NC_000001.10:g.155206175G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004548.6, RCV000041967.6,