rs778479139

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

763937

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs778479139
dbSNP (classic)	rs778479139
ClinGen	rs778479139
ebi	rs778479139
HLI	rs778479139
Exac	rs778479139
Gnomad	rs778479139
Varsome	rs778479139
LitVar	rs778479139
Map	rs778479139
PheGenI	rs778479139
Biobank	rs778479139
1000 genomes	rs778479139
hgdp	rs778479139
ensembl	rs778479139
geneview	rs778479139
scholar	rs778479139
google	rs778479139
pharmgkb	rs778479139
gwascentral	rs778479139
openSNP	rs778479139
23andMe	rs778479139
SNPshot	rs778479139
SNPdbe	rs778479139
MSV3d	rs778479139
GWAS Ctlg	rs778479139

Max Magnitude

8

ClinVar
Risk	Rs778479139(A;A)
Alt	Rs778479139(A;A)
Reference	Rs778479139(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.744581G>A
CLNSRC
CLNACC	RCV000191977.1,