rs1064795599

Orientation

plus

Stabilized

plus

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

Chromosome

8

Position

144359627

Gene	FBXL6, SLC52A2

is a	snp
is	mentioned by
dbSNP	rs1064795599
dbSNP (classic)	rs1064795599
ClinGen	rs1064795599
ebi	rs1064795599
HLI	rs1064795599
Exac	rs1064795599
Gnomad	rs1064795599
Varsome	rs1064795599
LitVar	rs1064795599
Map	rs1064795599
PheGenI	rs1064795599
Biobank	rs1064795599
1000 genomes	rs1064795599
hgdp	rs1064795599
ensembl	rs1064795599
geneview	rs1064795599
scholar	rs1064795599
google	rs1064795599
pharmgkb	rs1064795599
gwascentral	rs1064795599
openSNP	rs1064795599
23andMe	rs1064795599
SNPshot	rs1064795599
SNPdbe	rs1064795599
MSV3d	rs1064795599
GWAS Ctlg	rs1064795599

Max Magnitude

8

ClinVar
Risk	Rs1064795599(T;T)
Alt	Rs1064795599(T;T)
Reference	Rs1064795599(G;G)
Significance	Probable-Pathogenic
Disease	not provided
Variation	info
Gene	FBXL6 SLC52A2
CLNDBN	not provided
Reversed	0
HGVS	NC_000008.10:g.145583287G>T
CLNSRC
CLNACC	RCV000483042.1,