rs1060499531

Orientation

minus

Stabilized

minus

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/normal

Chromosome

20

Position

761143

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs1060499531
dbSNP (classic)	rs1060499531
ClinGen	rs1060499531
ebi	rs1060499531
HLI	rs1060499531
Exac	rs1060499531
Gnomad	rs1060499531
Varsome	rs1060499531
LitVar	rs1060499531
Map	rs1060499531
PheGenI	rs1060499531
Biobank	rs1060499531
1000 genomes	rs1060499531
hgdp	rs1060499531
ensembl	rs1060499531
geneview	rs1060499531
scholar	rs1060499531
google	rs1060499531
pharmgkb	rs1060499531
gwascentral	rs1060499531
openSNP	rs1060499531
23andMe	rs1060499531
SNPshot	rs1060499531
SNPdbe	rs1060499531
MSV3d	rs1060499531
GWAS Ctlg	rs1060499531

Max Magnitude

8

ClinVar
Risk	Rs1060499531(A;A)
Alt	Rs1060499531(A;A)
Reference	Rs1060499531(G;G)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 1
Variation	info
Gene	SLC52A3
CLNDBN	Brown-Vialetto-Van Laere syndrome 1
Reversed	1
HGVS	NC_000020.10:g.741787C>T
CLNSRC
CLNACC	RCV000191981.1,