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rs1057516755

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TCAA;TCAA) 0 common in clinvar
Make rs1057516755(-;-)
Make rs1057516755(-;TCAA)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72348075
GeneHEXA
is asnp
is mentioned by
dbSNPrs1057516755
dbSNP (old)rs1057516755
ClinGenrs1057516755
ebirs1057516755
HLIrs1057516755
Exacrs1057516755
Gnomadrs1057516755
Varsomers1057516755
LitVarrs1057516755
Maprs1057516755
PheGenIrs1057516755
Biobankrs1057516755
1000 genomesrs1057516755
hgdprs1057516755
ensemblrs1057516755
gopubmedrs1057516755
geneviewrs1057516755
scholarrs1057516755
googlers1057516755
pharmgkbrs1057516755
gwascentralrs1057516755
openSNPrs1057516755
23andMers1057516755
23andMe allrs1057516755
SNPshotrs1057516755
SNPdbers1057516755
MSV3drs1057516755
GWAS Ctlgrs1057516755
Max Magnitude0
ClinVar
Risk rs1057516755(-;-)
Alt rs1057516755(-;-)
Reference Rs1057516755(TCAA;TCAA)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72640416_72640419delTTGA
CLNSRC
CLNACC RCV000411211.1,