rs398123068

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

8

Position

144360406

Gene	FBXL6, SLC52A2

is a	snp
is	mentioned by
dbSNP	rs398123068
dbSNP (classic)	rs398123068
ClinGen	rs398123068
ebi	rs398123068
HLI	rs398123068
Exac	rs398123068
Gnomad	rs398123068
Varsome	rs398123068
LitVar	rs398123068
Map	rs398123068
PheGenI	rs398123068
Biobank	rs398123068
1000 genomes	rs398123068
hgdp	rs398123068
ensembl	rs398123068
geneview	rs398123068
scholar	rs398123068
google	rs398123068
pharmgkb	rs398123068
gwascentral	rs398123068
openSNP	rs398123068
23andMe	rs398123068
SNPshot	rs398123068
SNPdbe	rs398123068
MSV3d	rs398123068
GWAS Ctlg	rs398123068

Max Magnitude

8

ClinVar
Risk	Rs398123068(G;G)
Alt	Rs398123068(G;G)
Reference	Rs398123068(A;A)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 2
Variation	info
Gene	FBXL6 SLC52A2
CLNDBN	Brown-Vialetto-Van Laere syndrome 2
Reversed	0
HGVS	NC_000008.10:g.145584066A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000082865.5,