Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057519463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 8.8 Tay-Sachs disease (predicted)
(-;TTCATGAG) 3 Carrier of a Tay-Sachs mutation
(TTCATGAG;TTCATGAG) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72349160
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057519463
dbSNP (old)rs1057519463
ClinGenrs1057519463
ebirs1057519463
HLIrs1057519463
Exacrs1057519463
Gnomadrs1057519463
Varsomers1057519463
Maprs1057519463
PheGenIrs1057519463
Biobankrs1057519463
1000 genomesrs1057519463
hgdprs1057519463
ensemblrs1057519463
gopubmedrs1057519463
geneviewrs1057519463
scholarrs1057519463
googlers1057519463
pharmgkbrs1057519463
gwascentralrs1057519463
openSNPrs1057519463
23andMers1057519463
23andMe allrs1057519463
SNPshotrs1057519463
SNPdbers1057519463
MSV3drs1057519463
GWAS Ctlgrs1057519463
Max Magnitude8.8
ClinVar
Risk Rs1057519463(-;-)
Alt Rs1057519463(-;-)
Reference Rs1057519463(TTCATGAG;TTCATGAG)
Significance Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72641501_72641508delCTCATGAA
CLNSRC
CLNACC RCV000416413.1,