rs386833993

Orientation

minus

Stabilized

minus

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

Make rs386833993(A;A)

Make rs386833993(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

73635482

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs386833993
dbSNP (classic)	rs386833993
ClinGen	rs386833993
ebi	rs386833993
HLI	rs386833993
Exac	rs386833993
Gnomad	rs386833993
Varsome	rs386833993
LitVar	rs386833993
Map	rs386833993
PheGenI	rs386833993
Biobank	rs386833993
1000 genomes	rs386833993
hgdp	rs386833993
ensembl	rs386833993
geneview	rs386833993
scholar	rs386833993
google	rs386833993
pharmgkb	rs386833993
gwascentral	rs386833993
openSNP	rs386833993
23andMe	rs386833993
SNPshot	rs386833993
SNPdbe	rs386833993
MSV3d	rs386833993
GWAS Ctlg	rs386833993

Max Magnitude

0

ClinVar
Risk	rs386833993(A;A)
Alt	rs386833993(A;A)
Reference	Rs386833993(G;G)
Significance	Probable-Pathogenic
Disease	Salla disease
Variation	info
Gene	SLC17A5
CLNDBN	Salla disease
Reversed	1
HGVS	NC_000006.11:g.74345205C>T
CLNSRC	ClinVar
CLNACC	RCV000049970.1,

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