rs386833988

Orientation

minus

Stabilized

minus

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

Make rs386833988(-;-)

Make rs386833988(-;GT)

Reference

GRCh38 38.1/141

Chromosome

6

Position

73610520

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs386833988
dbSNP (classic)	rs386833988
ClinGen	rs386833988
ebi	rs386833988
HLI	rs386833988
Exac	rs386833988
Gnomad	rs386833988
Varsome	rs386833988
LitVar	rs386833988
Map	rs386833988
PheGenI	rs386833988
Biobank	rs386833988
1000 genomes	rs386833988
hgdp	rs386833988
ensembl	rs386833988
geneview	rs386833988
scholar	rs386833988
google	rs386833988
pharmgkb	rs386833988
gwascentral	rs386833988
openSNP	rs386833988
23andMe	rs386833988
SNPshot	rs386833988
SNPdbe	rs386833988
MSV3d	rs386833988
GWAS Ctlg	rs386833988

Max Magnitude

0

ClinVar
Risk	rs386833988(-;-)
Alt	rs386833988(-;-)
Reference	Rs386833988(GT;GT)
Significance	Probable-Pathogenic
Disease	Salla disease
Variation	info
Gene	SLC17A5
CLNDBN	Salla disease
Reversed	1
HGVS	NC_000006.11:g.74320243_74320244delAC
CLNSRC	ClinVar
CLNACC	RCV000049965.2,

[PMID 10947946] The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.