rs754753126

Orientation

plus

Stabilized

plus

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

Make rs754753126(C;T)

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

761240

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs754753126
dbSNP (classic)	rs754753126
ClinGen	rs754753126
ebi	rs754753126
HLI	rs754753126
Exac	rs754753126
Gnomad	rs754753126
Varsome	rs754753126
LitVar	rs754753126
Map	rs754753126
PheGenI	rs754753126
Biobank	rs754753126
1000 genomes	rs754753126
hgdp	rs754753126
ensembl	rs754753126
geneview	rs754753126
scholar	rs754753126
google	rs754753126
pharmgkb	rs754753126
gwascentral	rs754753126
openSNP	rs754753126
23andMe	rs754753126
SNPshot	rs754753126
SNPdbe	rs754753126
MSV3d	rs754753126
GWAS Ctlg	rs754753126

Max Magnitude

8

ClinVar
Risk	Rs754753126(C;C) rs754753126(G;G)
Alt	Rs754753126(C;C) rs754753126(G;G)
Reference	Rs754753126(T;T)
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.741884T>G
CLNSRC
CLNACC	RCV000191970.1,