rs104893892

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs104893892(C;C)

Make rs104893892(C;G)

Reference

GRCh38 38.1/141

Chromosome

5

Position

151267375

Gene

GM2A

is a	snp
is	mentioned by
dbSNP	rs104893892
dbSNP (classic)	rs104893892
ClinGen	rs104893892
ebi	rs104893892
HLI	rs104893892
Exac	rs104893892
Gnomad	rs104893892
Varsome	rs104893892
LitVar	rs104893892
Map	rs104893892
PheGenI	rs104893892
Biobank	rs104893892
1000 genomes	rs104893892
hgdp	rs104893892
ensembl	rs104893892
geneview	rs104893892
scholar	rs104893892
google	rs104893892
pharmgkb	rs104893892
gwascentral	rs104893892
openSNP	rs104893892
23andMe	rs104893892
SNPshot	rs104893892
SNPdbe	rs104893892
MSV3d	rs104893892
GWAS Ctlg	rs104893892

Max Magnitude

0

OMIM	613109
Desc
Variant	0002
Related	also

ClinVar
Risk	rs104893892(A;A) rs104893892(C;C)
Alt	rs104893892(A;A) rs104893892(C;C)
Reference	Rs104893892(G;G)
Significance	Pathogenic
Disease	Tay-Sachs disease
Variation	info
Gene	GM2A
CLNDBN	Tay-Sachs disease, variant AB
Reversed	0
HGVS	NC_000005.9:g.150646936G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000422.3,