rs267606688

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

20

Position

765693

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs267606688
dbSNP (classic)	rs267606688
ClinGen	rs267606688
ebi	rs267606688
HLI	rs267606688
Exac	rs267606688
Gnomad	rs267606688
Varsome	rs267606688
LitVar	rs267606688
Map	rs267606688
PheGenI	rs267606688
Biobank	rs267606688
1000 genomes	rs267606688
hgdp	rs267606688
ensembl	rs267606688
geneview	rs267606688
scholar	rs267606688
google	rs267606688
pharmgkb	rs267606688
gwascentral	rs267606688
openSNP	rs267606688
23andMe	rs267606688
SNPshot	rs267606688
SNPdbe	rs267606688
MSV3d	rs267606688
GWAS Ctlg	rs267606688

Max Magnitude

8

ClinVar
Risk	Rs267606688(A;A)
Alt	Rs267606688(A;A)
Reference	Rs267606688(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.746337G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000168.4,