rs386833987

Orientation

minus

Stabilized

minus

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

Make rs386833987(-;-)

Make rs386833987(-;TA)

Reference

GRCh38 38.1/141

Chromosome

6

Position

73615418

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs386833987
dbSNP (classic)	rs386833987
ClinGen	rs386833987
ebi	rs386833987
HLI	rs386833987
Exac	rs386833987
Gnomad	rs386833987
Varsome	rs386833987
LitVar	rs386833987
Map	rs386833987
PheGenI	rs386833987
Biobank	rs386833987
1000 genomes	rs386833987
hgdp	rs386833987
ensembl	rs386833987
geneview	rs386833987
scholar	rs386833987
google	rs386833987
pharmgkb	rs386833987
gwascentral	rs386833987
openSNP	rs386833987
23andMe	rs386833987
SNPshot	rs386833987
SNPdbe	rs386833987
MSV3d	rs386833987
GWAS Ctlg	rs386833987

Max Magnitude

0

ClinVar
Risk	rs386833987(-;-)
Alt	rs386833987(-;-)
Reference	Rs386833987(TA;TA)
Significance	Other
Disease	Salla disease
Variation	info
Gene	SLC17A5
CLNDBN	Salla disease
Reversed	1
HGVS	NC_000006.11:g.74325141_74325142delTA
CLNSRC	ClinVar
CLNACC	RCV000049964.1,

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

[PMID 11992753] Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.