rs778363575

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	8	Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(C;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

763932

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs778363575
dbSNP (classic)	rs778363575
ClinGen	rs778363575
ebi	rs778363575
HLI	rs778363575
Exac	rs778363575
Gnomad	rs778363575
Varsome	rs778363575
LitVar	rs778363575
Map	rs778363575
PheGenI	rs778363575
Biobank	rs778363575
1000 genomes	rs778363575
hgdp	rs778363575
ensembl	rs778363575
geneview	rs778363575
scholar	rs778363575
google	rs778363575
pharmgkb	rs778363575
gwascentral	rs778363575
openSNP	rs778363575
23andMe	rs778363575
SNPshot	rs778363575
SNPdbe	rs778363575
MSV3d	rs778363575
GWAS Ctlg	rs778363575

Max Magnitude

8

ClinVar
Risk	rs778363575(A;A) Rs778363575(C;C)
Alt	rs778363575(A;A) Rs778363575(C;C)
Reference	Rs778363575(G;G)
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.744576G>C
CLNSRC
CLNACC	RCV000191963.1,