rs1057524605

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

761213

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs1057524605
dbSNP (classic)	rs1057524605
ClinGen	rs1057524605
ebi	rs1057524605
HLI	rs1057524605
Exac	rs1057524605
Gnomad	rs1057524605
Varsome	rs1057524605
LitVar	rs1057524605
Map	rs1057524605
PheGenI	rs1057524605
Biobank	rs1057524605
1000 genomes	rs1057524605
hgdp	rs1057524605
ensembl	rs1057524605
geneview	rs1057524605
scholar	rs1057524605
google	rs1057524605
pharmgkb	rs1057524605
gwascentral	rs1057524605
openSNP	rs1057524605
23andMe	rs1057524605
SNPshot	rs1057524605
SNPdbe	rs1057524605
MSV3d	rs1057524605
GWAS Ctlg	rs1057524605

Max Magnitude

8

ClinVar
Risk	Rs1057524605(A;A)
Alt	Rs1057524605(A;A)
Reference	Rs1057524605(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	SLC52A3
CLNDBN	not provided
Reversed	1
HGVS	NC_000020.10:g.741857C>T
CLNSRC
CLNACC	RCV000431504.1,