rs397514658

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

8

Position

144360932

Gene

SLC52A2

is a	snp
is	mentioned by
dbSNP	rs397514658
dbSNP (classic)	rs397514658
ClinGen	rs397514658
ebi	rs397514658
HLI	rs397514658
Exac	rs397514658
Gnomad	rs397514658
Varsome	rs397514658
LitVar	rs397514658
Map	rs397514658
PheGenI	rs397514658
Biobank	rs397514658
1000 genomes	rs397514658
hgdp	rs397514658
ensembl	rs397514658
geneview	rs397514658
scholar	rs397514658
google	rs397514658
pharmgkb	rs397514658
gwascentral	rs397514658
openSNP	rs397514658
23andMe	rs397514658
SNPshot	rs397514658
SNPdbe	rs397514658
MSV3d	rs397514658
GWAS Ctlg	rs397514658

Max Magnitude

8

ClinVar
Risk	Rs397514658(A;A)
Alt	Rs397514658(A;A)
Reference	Rs397514658(G;G)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 2
Variation	info
Gene	SLC52A2
CLNDBN	Brown-Vialetto-Van Laere syndrome 2
Reversed	0
HGVS	NC_000008.10:g.145584592G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033239.6,