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rs1057516957

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516957(C;T)
Make rs1057516957(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72375777
GeneHEXA, HEXA-AS1
is asnp
is mentioned by
dbSNPrs1057516957
dbSNP (old)rs1057516957
ClinGenrs1057516957
ebirs1057516957
HLIrs1057516957
Exacrs1057516957
Gnomadrs1057516957
Varsomers1057516957
LitVarrs1057516957
Maprs1057516957
PheGenIrs1057516957
Biobankrs1057516957
1000 genomesrs1057516957
hgdprs1057516957
ensemblrs1057516957
gopubmedrs1057516957
geneviewrs1057516957
scholarrs1057516957
googlers1057516957
pharmgkbrs1057516957
gwascentralrs1057516957
openSNPrs1057516957
23andMers1057516957
23andMe allrs1057516957
SNPshotrs1057516957
SNPdbers1057516957
MSV3drs1057516957
GWAS Ctlgrs1057516957
Max Magnitude0
ClinVar
Risk rs1057516957(T;T)
Alt rs1057516957(T;T)
Reference Rs1057516957(C;C)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA HEXA-AS1
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72668118G>A
CLNSRC
CLNACC RCV000411228.1,