rs121907979

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72375857

Gene	HEXA, HEXA-AS1

is a	snp
is	mentioned by
dbSNP	rs121907979
dbSNP (classic)	rs121907979
ClinGen	rs121907979
ebi	rs121907979
HLI	rs121907979
Exac	rs121907979
Gnomad	rs121907979
Varsome	rs121907979
LitVar	rs121907979
Map	rs121907979
PheGenI	rs121907979
Biobank	rs121907979
1000 genomes	rs121907979
hgdp	rs121907979
ensembl	rs121907979
geneview	rs121907979
scholar	rs121907979
google	rs121907979
pharmgkb	rs121907979
gwascentral	rs121907979
openSNP	rs121907979
23andMe	rs121907979
SNPshot	rs121907979
SNPdbe	rs121907979
MSV3d	rs121907979
GWAS Ctlg	rs121907979

Max Magnitude

8.8

OMIM	606869
Desc
Variant	0049
Related	also

ClinVar
Risk	Rs121907979(G;G)
Alt	Rs121907979(G;G)
Reference	Rs121907979(T;T)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA HEXA-AS1
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72668198A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004141.2,