rs267606862

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	8.8	Tay-Sachs disease (predicted)
(A;G)	3	Carrier of a Tay-Sachs mutation
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

15

Position

72346681

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs267606862
dbSNP (classic)	rs267606862
ClinGen	rs267606862
ebi	rs267606862
HLI	rs267606862
Exac	rs267606862
Gnomad	rs267606862
Varsome	rs267606862
LitVar	rs267606862
Map	rs267606862
PheGenI	rs267606862
Biobank	rs267606862
1000 genomes	rs267606862
hgdp	rs267606862
ensembl	rs267606862
geneview	rs267606862
scholar	rs267606862
google	rs267606862
pharmgkb	rs267606862
gwascentral	rs267606862
openSNP	rs267606862
23andMe	rs267606862
SNPshot	rs267606862
SNPdbe	rs267606862
MSV3d	rs267606862
GWAS Ctlg	rs267606862

Max Magnitude

8.8

aka c.1176G>A (p.Trp392Ter or W392X)

ClinVar
Risk	Rs267606862(A;A)
Alt	Rs267606862(A;A)
Reference	Rs267606862(G;G)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72639022C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004142.2,