rs386833995

Orientation

minus

Stabilized

minus

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

Make rs386833995(C;C)

Make rs386833995(C;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

73644604

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs386833995
dbSNP (classic)	rs386833995
ClinGen	rs386833995
ebi	rs386833995
HLI	rs386833995
Exac	rs386833995
Gnomad	rs386833995
Varsome	rs386833995
LitVar	rs386833995
Map	rs386833995
PheGenI	rs386833995
Biobank	rs386833995
1000 genomes	rs386833995
hgdp	rs386833995
ensembl	rs386833995
geneview	rs386833995
scholar	rs386833995
google	rs386833995
pharmgkb	rs386833995
gwascentral	rs386833995
openSNP	rs386833995
23andMe	rs386833995
SNPshot	rs386833995
SNPdbe	rs386833995
MSV3d	rs386833995
GWAS Ctlg	rs386833995

Max Magnitude

0

ClinVar
Risk	rs386833995(C;C)
Alt	rs386833995(C;C)
Reference	Rs386833995(G;G)
Significance	Probable-Pathogenic
Disease	Salla disease
Variation	info
Gene	SLC17A5
CLNDBN	Salla disease
Reversed	1
HGVS	NC_000006.11:g.74354327C>G
CLNSRC	ClinVar
CLNACC	RCV000049972.1,

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