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rs74598136

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs74598136(C;T)
Make rs74598136(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position155205541
GeneGBA
is asnp
is mentioned by
dbSNPrs74598136
ebirs74598136
HLIrs74598136
Exacrs74598136
Varsomers74598136
Maprs74598136
PheGenIrs74598136
hapmaprs74598136
1000 genomesrs74598136
hgdprs74598136
ensemblrs74598136
gopubmedrs74598136
geneviewrs74598136
scholarrs74598136
googlers74598136
pharmgkbrs74598136
gwascentralrs74598136
openSNPrs74598136
23andMers74598136
23andMe allrs74598136
SNP Nexus

SNPshotrs74598136
SNPdbers74598136
MSV3drs74598136
GWAS Ctlgrs74598136
Max Magnitude0
OMIM606463
Desc
Variant0036
Relatedalso
ClinVar
Risk rs74598136(T;T)
Alt rs74598136(T;T)
Reference rs74598136(C;C)
Significance Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155205541G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004568.2,