rs794729653

Orientation

minus

Stabilized

minus

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

Make rs794729653(-;-)

Make rs794729653(-;A)

Reference

GRCh38.p2 38.2/146

Chromosome

6

Position

73641807

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs794729653
dbSNP (classic)	rs794729653
ClinGen	rs794729653
ebi	rs794729653
HLI	rs794729653
Exac	rs794729653
Gnomad	rs794729653
Varsome	rs794729653
LitVar	rs794729653
Map	rs794729653
PheGenI	rs794729653
Biobank	rs794729653
1000 genomes	rs794729653
hgdp	rs794729653
ensembl	rs794729653
geneview	rs794729653
scholar	rs794729653
google	rs794729653
pharmgkb	rs794729653
gwascentral	rs794729653
openSNP	rs794729653
23andMe	rs794729653
SNPshot	rs794729653
SNPdbe	rs794729653
MSV3d	rs794729653
GWAS Ctlg	rs794729653

Max Magnitude

0

ClinVar
Risk	rs794729653(-;-)
Alt	rs794729653(-;-)
Reference	Rs794729653(A;A)
Significance	Probable-Pathogenic
Disease	Salla disease Sialic acid storage disease
Variation	info
Gene	SLC17A5
CLNDBN	Salla disease Sialic acid storage disease, severe infantile type
Reversed	1
HGVS	NC_000006.11:g.74351530delT
CLNSRC
CLNACC	RCV000185578.2, RCV000185579.2,