rs121907965

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72375972

Gene	HEXA, HEXA-AS1

is a	snp
is	mentioned by
dbSNP	rs121907965
dbSNP (classic)	rs121907965
ClinGen	rs121907965
ebi	rs121907965
HLI	rs121907965
Exac	rs121907965
Gnomad	rs121907965
Varsome	rs121907965
LitVar	rs121907965
Map	rs121907965
PheGenI	rs121907965
Biobank	rs121907965
1000 genomes	rs121907965
hgdp	rs121907965
ensembl	rs121907965
geneview	rs121907965
scholar	rs121907965
google	rs121907965
pharmgkb	rs121907965
gwascentral	rs121907965
openSNP	rs121907965
23andMe	rs121907965
SNPshot	rs121907965
SNPdbe	rs121907965
MSV3d	rs121907965
GWAS Ctlg	rs121907965

Max Magnitude

8.8

23andMe name: i5004834

OMIM	606869
Desc
Variant	0027
Related	also

ClinVar
Risk	rs121907965(C;C) Rs121907965(G;G)
Alt	rs121907965(C;C) Rs121907965(G;G)
Reference	Rs121907965(A;A)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA-AS1 HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72668313T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004120.2,