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rs777042785

From SNPedia

Orientationplus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs777042785(-;-)
Make rs777042785(-;TA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position72346549
GeneHEXA
is asnp
is mentioned by
dbSNPrs777042785
ebirs777042785
HLIrs777042785
Exacrs777042785
Varsomers777042785
Maprs777042785
PheGenIrs777042785
hapmaprs777042785
1000 genomesrs777042785
hgdprs777042785
ensemblrs777042785
gopubmedrs777042785
geneviewrs777042785
scholarrs777042785
googlers777042785
pharmgkbrs777042785
gwascentralrs777042785
openSNPrs777042785
23andMers777042785
23andMe allrs777042785
SNP Nexus

SNPshotrs777042785
SNPdbers777042785
MSV3drs777042785
GWAS Ctlgrs777042785
Max Magnitude0
ClinVar
Risk rs777042785(;)
Alt rs777042785(;)
Reference rs777042785(TA;TA)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 0
HGVS NC_000015.9:g.72638890_72638891delTA
CLNSRC
CLNACC RCV000169438.1,