rs786204754

Orientation

minus

Stabilized

minus

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

Make rs786204754(A;A)

Make rs786204754(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

72353067

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs786204754
dbSNP (classic)	rs786204754
ClinGen	rs786204754
ebi	rs786204754
HLI	rs786204754
Exac	rs786204754
Gnomad	rs786204754
Varsome	rs786204754
LitVar	rs786204754
Map	rs786204754
PheGenI	rs786204754
Biobank	rs786204754
1000 genomes	rs786204754
hgdp	rs786204754
ensembl	rs786204754
geneview	rs786204754
scholar	rs786204754
google	rs786204754
pharmgkb	rs786204754
gwascentral	rs786204754
openSNP	rs786204754
23andMe	rs786204754
SNPshot	rs786204754
SNPdbe	rs786204754
MSV3d	rs786204754
GWAS Ctlg	rs786204754

Max Magnitude

0

ClinVar
Risk	rs786204754(A;A)
Alt	rs786204754(A;A)
Reference	Rs786204754(G;G)
Significance	Probable-Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72645408C>T
CLNSRC
CLNACC	RCV000169610.1,