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rs1057517348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs1057517348(-;-)
Make rs1057517348(-;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72375948
GeneHEXA, HEXA-AS1
is asnp
is mentioned by
dbSNPrs1057517348
dbSNP (classic)rs1057517348
ClinGenrs1057517348
ebirs1057517348
HLIrs1057517348
Exacrs1057517348
Gnomadrs1057517348
Varsomers1057517348
LitVarrs1057517348
Maprs1057517348
PheGenIrs1057517348
Biobankrs1057517348
1000 genomesrs1057517348
hgdprs1057517348
ensemblrs1057517348
geneviewrs1057517348
scholarrs1057517348
googlers1057517348
pharmgkbrs1057517348
gwascentralrs1057517348
openSNPrs1057517348
23andMers1057517348
23andMe allrs1057517348
SNPshotrs1057517348
SNPdbers1057517348
MSV3drs1057517348
GWAS Ctlgrs1057517348
Max Magnitude0
ClinVar
Risk rs1057517348(-;-)
Alt rs1057517348(-;-)
Reference Rs1057517348(TT;TT)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA-AS1 HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72668289_72668290delAA
CLNSRC
CLNACC RCV000409425.1,