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rs766138785

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs766138785(-;-)
Make rs766138785(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position72347709
GeneHEXA
is asnp
is mentioned by
dbSNPrs766138785
ebirs766138785
HLIrs766138785
Exacrs766138785
Varsomers766138785
Maprs766138785
PheGenIrs766138785
hapmaprs766138785
1000 genomesrs766138785
hgdprs766138785
ensemblrs766138785
gopubmedrs766138785
geneviewrs766138785
scholarrs766138785
googlers766138785
pharmgkbrs766138785
gwascentralrs766138785
openSNPrs766138785
23andMers766138785
23andMe allrs766138785
SNP Nexus

SNPshotrs766138785
SNPdbers766138785
MSV3drs766138785
GWAS Ctlgrs766138785
Max Magnitude0
ClinVar
Risk rs766138785(;)
Alt rs766138785(;)
Reference rs766138785(C;C)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 0
HGVS NC_000015.9:g.72640050delC
CLNSRC
CLNACC RCV000169594.1,