rs386833990

Orientation

minus

Stabilized

minus

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

Make rs386833990(A;A)

Make rs386833990(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

73644407

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs386833990
dbSNP (classic)	rs386833990
ClinGen	rs386833990
ebi	rs386833990
HLI	rs386833990
Exac	rs386833990
Gnomad	rs386833990
Varsome	rs386833990
LitVar	rs386833990
Map	rs386833990
PheGenI	rs386833990
Biobank	rs386833990
1000 genomes	rs386833990
hgdp	rs386833990
ensembl	rs386833990
geneview	rs386833990
scholar	rs386833990
google	rs386833990
pharmgkb	rs386833990
gwascentral	rs386833990
openSNP	rs386833990
23andMe	rs386833990
SNPshot	rs386833990
SNPdbe	rs386833990
MSV3d	rs386833990
GWAS Ctlg	rs386833990

Max Magnitude

0

ClinVar
Risk	rs386833990(A;A)
Alt	rs386833990(A;A)
Reference	Rs386833990(G;G)
Significance	Pathogenic
Disease	Salla disease not provided
Variation	info
Gene	SLC17A5
CLNDBN	Salla disease not provided
Reversed	1
HGVS	NC_000006.11:g.74354130C>T
CLNSRC	ClinVar
CLNACC	RCV000049967.1, RCV000426686.1,

[PMID 15172001] Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.