rs370499474

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

763775

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs370499474
dbSNP (classic)	rs370499474
ClinGen	rs370499474
ebi	rs370499474
HLI	rs370499474
Exac	rs370499474
Gnomad	rs370499474
Varsome	rs370499474
LitVar	rs370499474
Map	rs370499474
PheGenI	rs370499474
Biobank	rs370499474
1000 genomes	rs370499474
hgdp	rs370499474
ensembl	rs370499474
geneview	rs370499474
scholar	rs370499474
google	rs370499474
pharmgkb	rs370499474
gwascentral	rs370499474
openSNP	rs370499474
23andMe	rs370499474
SNPshot	rs370499474
SNPdbe	rs370499474
MSV3d	rs370499474
GWAS Ctlg	rs370499474

Max Magnitude

8

ClinVar
Risk	Rs370499474(A;A)
Alt	Rs370499474(A;A)
Reference	Rs370499474(G;G)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 1 not provided
Variation	info
Gene	SLC52A3
CLNDBN	Brown-Vialetto-Van Laere syndrome 1 not provided
Reversed	0
HGVS	NC_000020.10:g.744419G>A
CLNSRC
CLNACC	RCV000191965.1, RCV000483942.1,