rs374071862

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;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

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

144359875

Gene	FBXL6, SLC52A2

is a	snp
is	mentioned by
dbSNP	rs374071862
dbSNP (classic)	rs374071862
ClinGen	rs374071862
ebi	rs374071862
HLI	rs374071862
Exac	rs374071862
Gnomad	rs374071862
Varsome	rs374071862
LitVar	rs374071862
Map	rs374071862
PheGenI	rs374071862
Biobank	rs374071862
1000 genomes	rs374071862
hgdp	rs374071862
ensembl	rs374071862
geneview	rs374071862
scholar	rs374071862
google	rs374071862
pharmgkb	rs374071862
gwascentral	rs374071862
openSNP	rs374071862
23andMe	rs374071862
SNPshot	rs374071862
SNPdbe	rs374071862
MSV3d	rs374071862
GWAS Ctlg	rs374071862

Max Magnitude

8

ClinVar
Risk	Rs374071862(T;T)
Alt	Rs374071862(T;T)
Reference	Rs374071862(C;C)
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.145583535C>T
CLNSRC
CLNACC	RCV000191983.1,