rs797045197

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

763900

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs797045197
dbSNP (classic)	rs797045197
ClinGen	rs797045197
ebi	rs797045197
HLI	rs797045197
Exac	rs797045197
Gnomad	rs797045197
Varsome	rs797045197
LitVar	rs797045197
Map	rs797045197
PheGenI	rs797045197
Biobank	rs797045197
1000 genomes	rs797045197
hgdp	rs797045197
ensembl	rs797045197
geneview	rs797045197
scholar	rs797045197
google	rs797045197
pharmgkb	rs797045197
gwascentral	rs797045197
openSNP	rs797045197
23andMe	rs797045197
SNPshot	rs797045197
SNPdbe	rs797045197
MSV3d	rs797045197
GWAS Ctlg	rs797045197

Max Magnitude

8

ClinVar
Risk	Rs797045197(G;G)
Alt	Rs797045197(G;G)
Reference	Rs797045197(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.744544A>C
CLNSRC
CLNACC	RCV000191978.1,