rs386833994

minus

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

Make rs386833994(-;-)

Make rs386833994(-;TCATCATTAAGAAAT)

Reference

GRCh38 38.1/141

Chromosome

6

Position

73635385

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs386833994
dbSNP (classic)	rs386833994
ClinGen	rs386833994
ebi	rs386833994
HLI	rs386833994
Exac	rs386833994
Gnomad	rs386833994
Varsome	rs386833994
LitVar	rs386833994
Map	rs386833994
PheGenI	rs386833994
Biobank	rs386833994
1000 genomes	rs386833994
hgdp	rs386833994
ensembl	rs386833994
geneview	rs386833994
scholar	rs386833994
google	rs386833994
pharmgkb	rs386833994
gwascentral	rs386833994
openSNP	rs386833994
23andMe	rs386833994
SNPshot	rs386833994
SNPdbe	rs386833994
MSV3d	rs386833994
GWAS Ctlg	rs386833994

Max Magnitude

0

ClinVar
Risk	rs386833994(-;-)
Alt	rs386833994(-;-)
Reference	Rs386833994(TCATCATTAAGAAAT;TCATCATTAAGAAAT)
Significance	Pathogenic
Disease	Salla disease not provided
Variation	info
Gene	SLC17A5
CLNDBN	Salla disease not provided
Reversed	1
HGVS	NC_000006.11:g.74345108_74345122delATTTCTTAATGATGA
CLNSRC	ClinVar
CLNACC	RCV000049971.1, RCV000485185.1,

[PMID 12121352] An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.