rs200926928

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs200926928(C;C)

Make rs200926928(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

72349076

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs200926928
dbSNP (classic)	rs200926928
ClinGen	rs200926928
ebi	rs200926928
HLI	rs200926928
Exac	rs200926928
Gnomad	rs200926928
Varsome	rs200926928
LitVar	rs200926928
Map	rs200926928
PheGenI	rs200926928
Biobank	rs200926928
1000 genomes	rs200926928
hgdp	rs200926928
ensembl	rs200926928
geneview	rs200926928
scholar	rs200926928
google	rs200926928
pharmgkb	rs200926928
gwascentral	rs200926928
openSNP	rs200926928
23andMe	rs200926928
SNPshot	rs200926928
SNPdbe	rs200926928
MSV3d	rs200926928
GWAS Ctlg	rs200926928

Max Magnitude

0

ClinVar
Risk	rs200926928(C;C)
Alt	rs200926928(C;C)
Reference	Rs200926928(T;T)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	0
HGVS	NC_000015.9:g.72641417T>C
CLNSRC
CLNACC	RCV000169296.1,