rs1057519463

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

72349160

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1057519463
dbSNP (classic)	rs1057519463
ClinGen	rs1057519463
ebi	rs1057519463
HLI	rs1057519463
Exac	rs1057519463
Gnomad	rs1057519463
Varsome	rs1057519463
LitVar	rs1057519463
Map	rs1057519463
PheGenI	rs1057519463
Biobank	rs1057519463
1000 genomes	rs1057519463
hgdp	rs1057519463
ensembl	rs1057519463
geneview	rs1057519463
scholar	rs1057519463
google	rs1057519463
pharmgkb	rs1057519463
gwascentral	rs1057519463
openSNP	rs1057519463
23andMe	rs1057519463
SNPshot	rs1057519463
SNPdbe	rs1057519463
MSV3d	rs1057519463
GWAS Ctlg	rs1057519463

Max Magnitude

8.8

ClinVar
Risk	Rs1057519463(-;-)
Alt	Rs1057519463(-;-)
Reference	Rs1057519463(TTCATGAG;TTCATGAG)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72641501_72641508delCTCATGAA
CLNSRC
CLNACC	RCV000416413.1,