rs121907955

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

72345461

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907955
dbSNP (classic)	rs121907955
ClinGen	rs121907955
ebi	rs121907955
HLI	rs121907955
Exac	rs121907955
Gnomad	rs121907955
Varsome	rs121907955
LitVar	rs121907955
Map	rs121907955
PheGenI	rs121907955
Biobank	rs121907955
1000 genomes	rs121907955
hgdp	rs121907955
ensembl	rs121907955
geneview	rs121907955
scholar	rs121907955
google	rs121907955
pharmgkb	rs121907955
gwascentral	rs121907955
openSNP	rs121907955
23andMe	rs121907955
SNPshot	rs121907955
SNPdbe	rs121907955
MSV3d	rs121907955
GWAS Ctlg	rs121907955

Max Magnitude

8.8

23andMe name: i5004827

OMIM	606869
Desc
Variant	0009
Related	also

ClinVar
Risk	Rs121907955(A;A) rs121907955(T;T)
Alt	Rs121907955(A;A) rs121907955(T;T)
Reference	Rs121907955(G;G)
Significance	Pathogenic
Disease	Gm2-gangliosidosis Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	Gm2-gangliosidosis, juvenile Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72637802C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004099.2, RCV000409695.1,