rs267606687

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

20

Position

761198

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs267606687
dbSNP (classic)	rs267606687
ClinGen	rs267606687
ebi	rs267606687
HLI	rs267606687
Exac	rs267606687
Gnomad	rs267606687
Varsome	rs267606687
LitVar	rs267606687
Map	rs267606687
PheGenI	rs267606687
Biobank	rs267606687
1000 genomes	rs267606687
hgdp	rs267606687
ensembl	rs267606687
geneview	rs267606687
scholar	rs267606687
google	rs267606687
pharmgkb	rs267606687
gwascentral	rs267606687
openSNP	rs267606687
23andMe	rs267606687
SNPshot	rs267606687
SNPdbe	rs267606687
MSV3d	rs267606687
GWAS Ctlg	rs267606687

Max Magnitude

8

23andMe name: i5008318

ClinVar
Risk	Rs267606687(C;C)
Alt	Rs267606687(C;C)
Reference	Rs267606687(T;T)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 1
Variation	info
Gene	SLC52A3
CLNDBN	Brown-Vialetto-Van Laere syndrome 1
Reversed	1
HGVS	NC_000020.10:g.741842A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000167.8,