rs863225434

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

72346271

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs863225434
dbSNP (classic)	rs863225434
ClinGen	rs863225434
ebi	rs863225434
HLI	rs863225434
Exac	rs863225434
Gnomad	rs863225434
Varsome	rs863225434
LitVar	rs863225434
Map	rs863225434
PheGenI	rs863225434
Biobank	rs863225434
1000 genomes	rs863225434
hgdp	rs863225434
ensembl	rs863225434
geneview	rs863225434
scholar	rs863225434
google	rs863225434
pharmgkb	rs863225434
gwascentral	rs863225434
openSNP	rs863225434
23andMe	rs863225434
SNPshot	rs863225434
SNPdbe	rs863225434
MSV3d	rs863225434
GWAS Ctlg	rs863225434

Max Magnitude

8.8

aka c.1385A>T (p.Glu462Val or E462V)

23andMe name: i700568

ClinVar
Risk	Rs863225434(T;T)
Alt	Rs863225434(T;T)
Reference	Rs863225434(A;A)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72638612T>A
CLNSRC
CLNACC	RCV000202369.1,