rs754320812

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	8	Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended
(C;T)	3	Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation
(T;T)	0	common in clinvar

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

144360427

Gene	FBXL6, SLC52A2

is a	snp
is	mentioned by
dbSNP	rs754320812
dbSNP (classic)	rs754320812
ClinGen	rs754320812
ebi	rs754320812
HLI	rs754320812
Exac	rs754320812
Gnomad	rs754320812
Varsome	rs754320812
LitVar	rs754320812
Map	rs754320812
PheGenI	rs754320812
Biobank	rs754320812
1000 genomes	rs754320812
hgdp	rs754320812
ensembl	rs754320812
geneview	rs754320812
scholar	rs754320812
google	rs754320812
pharmgkb	rs754320812
gwascentral	rs754320812
openSNP	rs754320812
23andMe	rs754320812
SNPshot	rs754320812
SNPdbe	rs754320812
MSV3d	rs754320812
GWAS Ctlg	rs754320812

Max Magnitude

8

ClinVar
Risk	Rs754320812(C;C)
Alt	Rs754320812(C;C)
Reference	Rs754320812(T;T)
Significance	Other
Disease	Brown-Vialetto-Van Laere syndrome 2 not provided
Variation	info
Gene	FBXL6 SLC52A2
CLNDBN	Brown-Vialetto-Van Laere syndrome 2 not provided
Reversed	0
HGVS	NC_000008.10:g.145584087T>C
CLNSRC
CLNACC	RCV000191986.1, RCV000224069.2,