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rs1057517296

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517296(-;GA)
Make rs1057517296(GA;GA)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72375911
GeneHEXA, HEXA-AS1
is asnp
is mentioned by
dbSNPrs1057517296
dbSNP (old)rs1057517296
ClinGenrs1057517296
ebirs1057517296
HLIrs1057517296
Exacrs1057517296
Gnomadrs1057517296
Varsomers1057517296
LitVarrs1057517296
Maprs1057517296
PheGenIrs1057517296
Biobankrs1057517296
1000 genomesrs1057517296
hgdprs1057517296
ensemblrs1057517296
gopubmedrs1057517296
geneviewrs1057517296
scholarrs1057517296
googlers1057517296
pharmgkbrs1057517296
gwascentralrs1057517296
openSNPrs1057517296
23andMers1057517296
23andMe allrs1057517296
SNPshotrs1057517296
SNPdbers1057517296
MSV3drs1057517296
GWAS Ctlgrs1057517296
Max Magnitude0
ClinVar
Risk rs1057517296(GA;GA)
Alt rs1057517296(GA;GA)
Reference Rs1057517296(-;-)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA HEXA-AS1
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72668253_72668254dupTC
CLNSRC
CLNACC RCV000412167.1,