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rs78198234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs78198234(A;G)
Make rs78198234(G;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position155206211
GeneGBA
is asnp
is mentioned by
dbSNPrs78198234
ebirs78198234
HLIrs78198234
Exacrs78198234
Varsomers78198234
Maprs78198234
PheGenIrs78198234
hapmaprs78198234
1000 genomesrs78198234
hgdprs78198234
ensemblrs78198234
gopubmedrs78198234
geneviewrs78198234
scholarrs78198234
googlers78198234
pharmgkbrs78198234
gwascentralrs78198234
openSNPrs78198234
23andMers78198234
23andMe allrs78198234
SNP Nexus

SNPshotrs78198234
SNPdbers78198234
MSV3drs78198234
GWAS Ctlgrs78198234
Max Magnitude0
OMIM606463
Desc
Variant0037
Relatedalso
ClinVar
Risk rs78198234(G;G)
Alt rs78198234(G;G)
Reference rs78198234(A;A)
Significance Pathogenic
Disease Gaucher disease
Variation info
Gene GBA
CLNDBN Gaucher disease, perinatal lethal
Reversed 1
HGVS NC_000001.10:g.155206211T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004569.2,