rs386833992

Orientation

minus

Stabilized

minus

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

Make rs386833992(-;-)

Make rs386833992(-;A)

Reference

GRCh38 38.1/141

Chromosome

6

Position

73641709

Gene

SLC17A5

is a	snp
is	mentioned by
dbSNP	rs386833992
dbSNP (classic)	rs386833992
ClinGen	rs386833992
ebi	rs386833992
HLI	rs386833992
Exac	rs386833992
Gnomad	rs386833992
Varsome	rs386833992
LitVar	rs386833992
Map	rs386833992
PheGenI	rs386833992
Biobank	rs386833992
1000 genomes	rs386833992
hgdp	rs386833992
ensembl	rs386833992
geneview	rs386833992
scholar	rs386833992
google	rs386833992
pharmgkb	rs386833992
gwascentral	rs386833992
openSNP	rs386833992
23andMe	rs386833992
SNPshot	rs386833992
SNPdbe	rs386833992
MSV3d	rs386833992
GWAS Ctlg	rs386833992

Max Magnitude

0

ClinVar
Risk	rs386833992(-;-)
Alt	rs386833992(-;-)
Reference	Rs386833992(A;A)
Significance	Probable-Pathogenic
Disease	Salla disease
Variation	info
Gene	SLC17A5
CLNDBN	Salla disease
Reversed	1
HGVS	NC_000006.11:g.74351432delT
CLNSRC	ClinVar
CLNACC	RCV000049969.2,

[PMID 12592494] A case of Salla disease with involvement of the cerebellar white matter.