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rs786204754

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786204754(A;A)
Make rs786204754(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position72353067
GeneHEXA
is asnp
is mentioned by
dbSNPrs786204754
ebirs786204754
HLIrs786204754
Exacrs786204754
Varsomers786204754
Maprs786204754
PheGenIrs786204754
hapmaprs786204754
1000 genomesrs786204754
hgdprs786204754
ensemblrs786204754
gopubmedrs786204754
geneviewrs786204754
scholarrs786204754
googlers786204754
pharmgkbrs786204754
gwascentralrs786204754
openSNPrs786204754
23andMers786204754
23andMe allrs786204754
SNP Nexus

SNPshotrs786204754
SNPdbers786204754
MSV3drs786204754
GWAS Ctlgrs786204754
Max Magnitude0
ClinVar
Risk rs786204754(A;A)
Alt rs786204754(A;A)
Reference Rs786204754(G;G)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72645408C>T
CLNSRC
CLNACC RCV000169610.1,