rs786204721

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

72375971

Gene	HEXA, HEXA-AS1

is a	snp
is	mentioned by
dbSNP	rs786204721
dbSNP (classic)	rs786204721
ClinGen	rs786204721
ebi	rs786204721
HLI	rs786204721
Exac	rs786204721
Gnomad	rs786204721
Varsome	rs786204721
LitVar	rs786204721
Map	rs786204721
PheGenI	rs786204721
Biobank	rs786204721
1000 genomes	rs786204721
hgdp	rs786204721
ensembl	rs786204721
geneview	rs786204721
scholar	rs786204721
google	rs786204721
pharmgkb	rs786204721
gwascentral	rs786204721
openSNP	rs786204721
23andMe	rs786204721
SNPshot	rs786204721
SNPdbe	rs786204721
MSV3d	rs786204721
GWAS Ctlg	rs786204721

Max Magnitude

8.8

ClinVar
Risk	Rs786204721(C;C)
Alt	Rs786204721(C;C)
Reference	Rs786204721(T;T)
Significance	Other
Disease	Tay-Sachs disease not provided
Variation	info
Gene	HEXA-AS1 HEXA
CLNDBN	Tay-Sachs disease not provided
Reversed	1
HGVS	NC_000015.9:g.72668312A>G
CLNSRC
CLNACC	RCV000169541.1, RCV000255876.1,