rs199588390

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	8	Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(C;T)	3	Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(T;T)	0	common in clinvar

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

765713

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs199588390
dbSNP (classic)	rs199588390
ClinGen	rs199588390
ebi	rs199588390
HLI	rs199588390
Exac	rs199588390
Gnomad	rs199588390
Varsome	rs199588390
LitVar	rs199588390
Map	rs199588390
PheGenI	rs199588390
Biobank	rs199588390
1000 genomes	rs199588390
hgdp	rs199588390
ensembl	rs199588390
geneview	rs199588390
scholar	rs199588390
google	rs199588390
pharmgkb	rs199588390
gwascentral	rs199588390
openSNP	rs199588390
23andMe	rs199588390
SNPshot	rs199588390
SNPdbe	rs199588390
MSV3d	rs199588390
GWAS Ctlg	rs199588390

Max Magnitude

8

ClinVar
Risk	Rs199588390(C;C)
Alt	Rs199588390(C;C)
Reference	Rs199588390(T;T)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 1
Variation	info
Gene	SLC52A3
CLNDBN	Brown-Vialetto-Van Laere syndrome 1
Reversed	0
HGVS	NC_000020.10:g.746357T>C
CLNSRC
CLNACC	RCV000191957.1,