rs797045196

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

763582

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs797045196
dbSNP (classic)	rs797045196
ClinGen	rs797045196
ebi	rs797045196
HLI	rs797045196
Exac	rs797045196
Gnomad	rs797045196
Varsome	rs797045196
LitVar	rs797045196
Map	rs797045196
PheGenI	rs797045196
Biobank	rs797045196
1000 genomes	rs797045196
hgdp	rs797045196
ensembl	rs797045196
geneview	rs797045196
scholar	rs797045196
google	rs797045196
pharmgkb	rs797045196
gwascentral	rs797045196
openSNP	rs797045196
23andMe	rs797045196
SNPshot	rs797045196
SNPdbe	rs797045196
MSV3d	rs797045196
GWAS Ctlg	rs797045196

Max Magnitude

8

ClinVar
Risk	Rs797045196(T;T)
Alt	Rs797045196(T;T)
Reference	Rs797045196(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.744226C>A
CLNSRC
CLNACC	RCV000191968.1,