rs117160567

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;C)	2	Variant of uncertain significance wrt Tay Sachs

Make rs117160567(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72351103

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs117160567
dbSNP (classic)	rs117160567
ClinGen	rs117160567
ebi	rs117160567
HLI	rs117160567
Exac	rs117160567
Gnomad	rs117160567
Varsome	rs117160567
LitVar	rs117160567
Map	rs117160567
PheGenI	rs117160567
Biobank	rs117160567
1000 genomes	rs117160567
hgdp	rs117160567
ensembl	rs117160567
geneview	rs117160567
scholar	rs117160567
google	rs117160567
pharmgkb	rs117160567
gwascentral	rs117160567
openSNP	rs117160567
23andMe	rs117160567
SNPshot	rs117160567
SNPdbe	rs117160567
MSV3d	rs117160567
GWAS Ctlg	rs117160567

Max Magnitude

2

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 22723944 ]

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,