rs267606685

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	8	Brown-Vialetto-Van Laere Syndrome
(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

763901

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs267606685
dbSNP (classic)	rs267606685
ClinGen	rs267606685
ebi	rs267606685
HLI	rs267606685
Exac	rs267606685
Gnomad	rs267606685
Varsome	rs267606685
LitVar	rs267606685
Map	rs267606685
PheGenI	rs267606685
Biobank	rs267606685
1000 genomes	rs267606685
hgdp	rs267606685
ensembl	rs267606685
geneview	rs267606685
scholar	rs267606685
google	rs267606685
pharmgkb	rs267606685
gwascentral	rs267606685
openSNP	rs267606685
23andMe	rs267606685
SNPshot	rs267606685
SNPdbe	rs267606685
MSV3d	rs267606685
GWAS Ctlg	rs267606685

Max Magnitude

8

23andMe name: i5008316

ClinVar
Risk	Rs267606685(C;C)
Alt	Rs267606685(C;C)
Reference	Rs267606685(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.744545A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000165.5,