rs767263985

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

765401

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs767263985
dbSNP (classic)	rs767263985
ClinGen	rs767263985
ebi	rs767263985
HLI	rs767263985
Exac	rs767263985
Gnomad	rs767263985
Varsome	rs767263985
LitVar	rs767263985
Map	rs767263985
PheGenI	rs767263985
Biobank	rs767263985
1000 genomes	rs767263985
hgdp	rs767263985
ensembl	rs767263985
geneview	rs767263985
scholar	rs767263985
google	rs767263985
pharmgkb	rs767263985
gwascentral	rs767263985
openSNP	rs767263985
23andMe	rs767263985
SNPshot	rs767263985
SNPdbe	rs767263985
MSV3d	rs767263985
GWAS Ctlg	rs767263985

Max Magnitude

8

ClinVar
Risk	Rs767263985(T;T)
Alt	Rs767263985(T;T)
Reference	Rs767263985(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.746045G>T
CLNSRC
CLNACC	RCV000191975.1,