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rs587779407

From SNPedia

Orientationminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587779407(-;-)
Make rs587779407(-;T)
Make rs587779407(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position72350604
GeneHEXA
is asnp
is mentioned by
dbSNPrs587779407
ebirs587779407
HLIrs587779407
Exacrs587779407
Varsomers587779407
Maprs587779407
PheGenIrs587779407
hapmaprs587779407
1000 genomesrs587779407
hgdprs587779407
ensemblrs587779407
gopubmedrs587779407
geneviewrs587779407
scholarrs587779407
googlers587779407
pharmgkbrs587779407
gwascentralrs587779407
openSNPrs587779407
23andMers587779407
23andMe allrs587779407
SNP Nexus

SNPshotrs587779407
SNPdbers587779407
MSV3drs587779407
GWAS Ctlgrs587779407
Max Magnitude0
ClinVar
Risk rs587779407(T;T)
Alt rs587779407(T;T)
Reference rs587779407(;)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72642945_72642946insA
CLNSRC
CLNACC RCV000087096.1,