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rs786204721

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204721(C;C)
Make rs786204721(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position72375971
GeneHEXA, HEXA-AS1
is asnp
is mentioned by
dbSNPrs786204721
ebirs786204721
HLIrs786204721
Exacrs786204721
Varsomers786204721
Maprs786204721
PheGenIrs786204721
hapmaprs786204721
1000 genomesrs786204721
hgdprs786204721
ensemblrs786204721
gopubmedrs786204721
geneviewrs786204721
scholarrs786204721
googlers786204721
pharmgkbrs786204721
gwascentralrs786204721
openSNPrs786204721
23andMers786204721
23andMe allrs786204721
SNP Nexus

SNPshotrs786204721
SNPdbers786204721
MSV3drs786204721
GWAS Ctlgrs786204721
Max Magnitude0
ClinVar
Risk rs786204721(C;C)
Alt rs786204721(C;C)
Reference rs786204721(T;T)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA HEXA-AS1
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72668312A>G
CLNSRC
CLNACC RCV000169541.1,