rs121907960

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	8.8	Tay-Sachs disease (predicted)
(-;TTC)	3	Carrier of a Tay-Sachs mutation
(CTT;CTT)	0	common in clinvar
(TCT;TCT)	0	common in clinvar
(TTC;TTC)	0	common in complete genomics

Reference

GRCh38 38.1/141

Chromosome

15

Position

72349153

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907960
dbSNP (classic)	rs121907960
ClinGen	rs121907960
ebi	rs121907960
HLI	rs121907960
Exac	rs121907960
Gnomad	rs121907960
Varsome	rs121907960
LitVar	rs121907960
Map	rs121907960
PheGenI	rs121907960
Biobank	rs121907960
1000 genomes	rs121907960
hgdp	rs121907960
ensembl	rs121907960
geneview	rs121907960
scholar	rs121907960
google	rs121907960
pharmgkb	rs121907960
gwascentral	rs121907960
openSNP	rs121907960
23andMe	rs121907960
SNPshot	rs121907960
SNPdbe	rs121907960
MSV3d	rs121907960
GWAS Ctlg	rs121907960

Merged from

Rs778155650

Max Magnitude

8.8

OMIM	606869
Desc
Variant	0014
Related	also

ClinVar
Risk	Rs121907960(CTT;CTT) Rs121907960(-;-)
Alt	Rs121907960(CTT;CTT) Rs121907960(-;-)
Reference	Rs121907960(TTC;TTC)
Significance	Other
Disease	Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72641489_72641491delAAG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000169148.2,