rs121907972

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72353130

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907972
dbSNP (classic)	rs121907972
ClinGen	rs121907972
ebi	rs121907972
HLI	rs121907972
Exac	rs121907972
Gnomad	rs121907972
Varsome	rs121907972
LitVar	rs121907972
Map	rs121907972
PheGenI	rs121907972
Biobank	rs121907972
1000 genomes	rs121907972
hgdp	rs121907972
ensembl	rs121907972
geneview	rs121907972
scholar	rs121907972
google	rs121907972
pharmgkb	rs121907972
gwascentral	rs121907972
openSNP	rs121907972
23andMe	rs121907972
SNPshot	rs121907972
SNPdbe	rs121907972
MSV3d	rs121907972
GWAS Ctlg	rs121907972

Max Magnitude

8.8

aka c.508C>T (p.Arg170Trp or R170W)

23andMe name: i5000092

OMIM	606869
Desc
Variant	0039
Related	also

ClinVar
Risk	Rs121907972(T;T)
Alt	Rs121907972(T;T)
Reference	Rs121907972(C;C)
Significance	Other
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72645471G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004131.3,