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rs74500255

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74500255(A;A)
Make rs74500255(A;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position155207367
GeneGBA
is asnp
is mentioned by
dbSNPrs74500255
ebirs74500255
HLIrs74500255
Exacrs74500255
Varsomers74500255
Maprs74500255
PheGenIrs74500255
hapmaprs74500255
1000 genomesrs74500255
hgdprs74500255
ensemblrs74500255
gopubmedrs74500255
geneviewrs74500255
scholarrs74500255
googlers74500255
pharmgkbrs74500255
gwascentralrs74500255
openSNPrs74500255
23andMers74500255
23andMe allrs74500255
SNP Nexus

SNPshotrs74500255
SNPdbers74500255
MSV3drs74500255
GWAS Ctlgrs74500255
Max Magnitude0
OMIM606463
Desc
Variant0010
Relatedalso
ClinVar
Risk rs74500255(A;A)
Alt rs74500255(A;A)
Reference rs74500255(T;T)
Significance Pathogenic
Disease Gaucher's disease
Variation info
Gene GBA
CLNDBN Gaucher's disease, type 1
Reversed 1
HGVS NC_000001.10:g.155207367A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004537.4,