rs121907957

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

15

Position

72353129

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907957
dbSNP (classic)	rs121907957
ClinGen	rs121907957
ebi	rs121907957
HLI	rs121907957
Exac	rs121907957
Gnomad	rs121907957
Varsome	rs121907957
LitVar	rs121907957
Map	rs121907957
PheGenI	rs121907957
Biobank	rs121907957
1000 genomes	rs121907957
hgdp	rs121907957
ensembl	rs121907957
geneview	rs121907957
scholar	rs121907957
google	rs121907957
pharmgkb	rs121907957
gwascentral	rs121907957
openSNP	rs121907957
23andMe	rs121907957
SNPshot	rs121907957
SNPdbe	rs121907957
MSV3d	rs121907957
GWAS Ctlg	rs121907957

Max Magnitude

8.8

23andMe name: i5000091

OMIM	606869
Desc
Variant	0011
Related	also

ClinVar
Risk	Rs121907957(A;A)
Alt	Rs121907957(A;A)
Reference	Rs121907957(G;G)
Significance	Pathogenic
Disease	Tay-Sachs disease not provided
Variation	info
Gene	HEXA
CLNDBN	Tay-Sachs disease not provided
Reversed	1
HGVS	NC_000015.9:g.72645470C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004106.2, RCV000336253.1,