rs797044434

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

72349101

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs797044434
dbSNP (classic)	rs797044434
ClinGen	rs797044434
ebi	rs797044434
HLI	rs797044434
Exac	rs797044434
Gnomad	rs797044434
Varsome	rs797044434
LitVar	rs797044434
Map	rs797044434
PheGenI	rs797044434
Biobank	rs797044434
1000 genomes	rs797044434
hgdp	rs797044434
ensembl	rs797044434
geneview	rs797044434
scholar	rs797044434
google	rs797044434
pharmgkb	rs797044434
gwascentral	rs797044434
openSNP	rs797044434
23andMe	rs797044434
SNPshot	rs797044434
SNPdbe	rs797044434
MSV3d	rs797044434
GWAS Ctlg	rs797044434

Max Magnitude

8.8

ClinVar
Risk	Rs797044434(-;-)
Alt	Rs797044434(-;-)
Reference	Rs797044434(GAG;GAG)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease, B1 variant
Reversed	1
HGVS	NC_000015.9:g.72641442_72641444delCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004127.2,