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rs117160567

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 2 Variant of uncertain significance wrt Tay Sachs
Make rs117160567(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position72351103
GeneHEXA
is asnp
is mentioned by
dbSNPrs117160567
dbSNP (classic)rs117160567
ClinGenrs117160567
ebirs117160567
HLIrs117160567
Exacrs117160567
Gnomadrs117160567
Varsomers117160567
LitVarrs117160567
Maprs117160567
PheGenIrs117160567
Biobankrs117160567
1000 genomesrs117160567
hgdprs117160567
ensemblrs117160567
geneviewrs117160567
scholarrs117160567
googlers117160567
pharmgkbrs117160567
gwascentralrs117160567
openSNPrs117160567
23andMers117160567
23andMe allrs117160567
SNPshotrs117160567
SNPdbers117160567
MSV3drs117160567
GWAS Ctlgrs117160567
Max Magnitude2

aka c.672+30T>G

Although reported in ClinVar as pathogenic for Tay Sachs, the consensus seems to be that this variant is likely to be benign, because it's seen at a higher frequency in general and because minor homozygotes have been observed in large-scale sequencing projects. An additional discussion leaning towards this same conclusion can be found in [PMID nil]

ClinVar
Risk rs117160567(C;C)
Alt rs117160567(C;C)
Reference Rs117160567(A;A)
Significance Probable-non-pathogenic
Disease not specified Tay-Sachs disease
Variation info
Gene HEXA
CLNDBN not specified Tay-Sachs disease
Reversed 0
HGVS NC_000015.9:g.72643444A>C
CLNSRC
CLNACC RCV000250930.1, RCV000416442.1,