rs1800431

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs1800431(A;A)

Make rs1800431(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

72346551

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs1800431
dbSNP (classic)	rs1800431
ClinGen	rs1800431
ebi	rs1800431
HLI	rs1800431
Exac	rs1800431
Gnomad	rs1800431
Varsome	rs1800431
LitVar	rs1800431
Map	rs1800431
PheGenI	rs1800431
Biobank	rs1800431
1000 genomes	rs1800431
hgdp	rs1800431
ensembl	rs1800431
geneview	rs1800431
scholar	rs1800431
google	rs1800431
pharmgkb	rs1800431
gwascentral	rs1800431
openSNP	rs1800431
23andMe	rs1800431
SNPshot	rs1800431
SNPdbe	rs1800431
MSV3d	rs1800431
GWAS Ctlg	rs1800431

GMAF

0.101

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	Rs1800431(G;G)
Alt	Rs1800431(G;G)
Reference	rs1800431(A;A)
Significance	Other
Disease	not specified Tay-Sachs disease
Variation	info
Gene	HEXA
CLNDBN	not specified Tay-Sachs disease
Reversed	1
HGVS	NC_000015.9:g.72638892T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000079049.9, RCV000283218.1,