rs797045191

Orientation

minus

Stabilized

minus

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

765615

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs797045191
dbSNP (classic)	rs797045191
ClinGen	rs797045191
ebi	rs797045191
HLI	rs797045191
Exac	rs797045191
Gnomad	rs797045191
Varsome	rs797045191
LitVar	rs797045191
Map	rs797045191
PheGenI	rs797045191
Biobank	rs797045191
1000 genomes	rs797045191
hgdp	rs797045191
ensembl	rs797045191
geneview	rs797045191
scholar	rs797045191
google	rs797045191
pharmgkb	rs797045191
gwascentral	rs797045191
openSNP	rs797045191
23andMe	rs797045191
SNPshot	rs797045191
SNPdbe	rs797045191
MSV3d	rs797045191
GWAS Ctlg	rs797045191

Max Magnitude

8

ClinVar
Risk	Rs797045191(A;A)
Alt	Rs797045191(A;A)
Reference	Rs797045191(G;G)
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.746259C>T
CLNSRC
CLNACC	RCV000191958.1,