rs752218005

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	8	Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(A;G)	3	Carrier of a Brown-Vialetto-Van Laere syndrome mutation
(G;G)	0	common in clinvar

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

763636

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs752218005
dbSNP (classic)	rs752218005
ClinGen	rs752218005
ebi	rs752218005
HLI	rs752218005
Exac	rs752218005
Gnomad	rs752218005
Varsome	rs752218005
LitVar	rs752218005
Map	rs752218005
PheGenI	rs752218005
Biobank	rs752218005
1000 genomes	rs752218005
hgdp	rs752218005
ensembl	rs752218005
geneview	rs752218005
scholar	rs752218005
google	rs752218005
pharmgkb	rs752218005
gwascentral	rs752218005
openSNP	rs752218005
23andMe	rs752218005
SNPshot	rs752218005
SNPdbe	rs752218005
MSV3d	rs752218005
GWAS Ctlg	rs752218005

Max Magnitude

8

ClinVar
Risk	Rs752218005(A;A)
Alt	Rs752218005(A;A)
Reference	Rs752218005(G;G)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 1
Variation	info
Gene	SLC52A3
CLNDBN	Brown-Vialetto-Van Laere syndrome 1
Reversed	0
HGVS	NC_000020.10:g.744280G>A
CLNSRC
CLNACC	RCV000191966.1,