rs267606684

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

20

Position

765381

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs267606684
dbSNP (classic)	rs267606684
ClinGen	rs267606684
ebi	rs267606684
HLI	rs267606684
Exac	rs267606684
Gnomad	rs267606684
Varsome	rs267606684
LitVar	rs267606684
Map	rs267606684
PheGenI	rs267606684
Biobank	rs267606684
1000 genomes	rs267606684
hgdp	rs267606684
ensembl	rs267606684
geneview	rs267606684
scholar	rs267606684
google	rs267606684
pharmgkb	rs267606684
gwascentral	rs267606684
openSNP	rs267606684
23andMe	rs267606684
23andMe all	rs267606684
SNPshot	rs267606684
SNPdbe	rs267606684
MSV3d	rs267606684
GWAS Ctlg	rs267606684

Max Magnitude

8

23andMe name: i5008314

ClinVar
Risk	Rs267606684(T;T)
Alt	Rs267606684(T;T)
Reference	Rs267606684(C;C)
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.746025G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000164.5,