Have questions? Visit https://www.reddit.com/r/SNPedia

rs78396650

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs78396650(C;T)
Make rs78396650(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position155206217
GeneGBA
is asnp
is mentioned by
dbSNPrs78396650
ebirs78396650
HLIrs78396650
Exacrs78396650
Varsomers78396650
Maprs78396650
PheGenIrs78396650
hapmaprs78396650
1000 genomesrs78396650
hgdprs78396650
ensemblrs78396650
gopubmedrs78396650
geneviewrs78396650
scholarrs78396650
googlers78396650
pharmgkbrs78396650
gwascentralrs78396650
openSNPrs78396650
23andMers78396650
23andMe allrs78396650
SNP Nexus

SNPshotrs78396650
SNPdbers78396650
MSV3drs78396650
GWAS Ctlgrs78396650
Max Magnitude0
OMIM606463
Desc
Variant0028
Relatedalso
ClinVar
Risk rs78396650(G,T;G,T)
Alt rs78396650(G,T;G,T)
Reference rs78396650(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.155206217G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004560.4,