rs28942072

Orientation

minus

Stabilized

minus

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

Make rs28942072(C;C)

Make rs28942072(C;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

72349093

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs28942072
dbSNP (classic)	rs28942072
ClinGen	rs28942072
ebi	rs28942072
HLI	rs28942072
Exac	rs28942072
Gnomad	rs28942072
Varsome	rs28942072
LitVar	rs28942072
Map	rs28942072
PheGenI	rs28942072
Biobank	rs28942072
1000 genomes	rs28942072
hgdp	rs28942072
ensembl	rs28942072
geneview	rs28942072
scholar	rs28942072
google	rs28942072
pharmgkb	rs28942072
gwascentral	rs28942072
openSNP	rs28942072
23andMe	rs28942072
SNPshot	rs28942072
SNPdbe	rs28942072
MSV3d	rs28942072
GWAS Ctlg	rs28942072

Max Magnitude

8.8

OMIM	606869
Desc	GM2-GANGLIOSIDOSIS, SUBACUTE
Variant	0057
Related	also

ClinVar
Risk	Rs28942072(A;A) rs28942072(C;C)
Alt	Rs28942072(A;A) rs28942072(C;C)
Reference	Rs28942072(T;T)
Significance	Pathogenic
Disease	Gm2-gangliosidosis
Variation	info
Gene	HEXA
CLNDBN	Gm2-gangliosidosis, subacute
Reversed	1
HGVS	NC_000015.9:g.72641434A>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004149.2,