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rs786204585

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786204585(C;T)
Make rs786204585(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position72344139
GeneHEXA
is asnp
is mentioned by
dbSNPrs786204585
ebirs786204585
HLIrs786204585
Exacrs786204585
Varsomers786204585
Maprs786204585
PheGenIrs786204585
hapmaprs786204585
1000 genomesrs786204585
hgdprs786204585
ensemblrs786204585
gopubmedrs786204585
geneviewrs786204585
scholarrs786204585
googlers786204585
pharmgkbrs786204585
gwascentralrs786204585
openSNPrs786204585
23andMers786204585
23andMe allrs786204585
SNP Nexus

SNPshotrs786204585
SNPdbers786204585
MSV3drs786204585
GWAS Ctlgrs786204585
Max Magnitude0
ClinVar
Risk rs786204585(T;T)
Alt rs786204585(T;T)
Reference rs786204585(C;C)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72636480G>A
CLNSRC
CLNACC RCV000169328.1,