rs797045192

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	8	Brown-Vialetto-Van Laere syndrome type 1 mutation; riboflavin treatment recommended
(A;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

765602

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs797045192
dbSNP (classic)	rs797045192
ClinGen	rs797045192
ebi	rs797045192
HLI	rs797045192
Exac	rs797045192
Gnomad	rs797045192
Varsome	rs797045192
LitVar	rs797045192
Map	rs797045192
PheGenI	rs797045192
Biobank	rs797045192
1000 genomes	rs797045192
hgdp	rs797045192
ensembl	rs797045192
geneview	rs797045192
scholar	rs797045192
google	rs797045192
pharmgkb	rs797045192
gwascentral	rs797045192
openSNP	rs797045192
23andMe	rs797045192
SNPshot	rs797045192
SNPdbe	rs797045192
MSV3d	rs797045192
GWAS Ctlg	rs797045192

Max Magnitude

8

ClinVar
Risk	Rs797045192(A;A)
Alt	Rs797045192(A;A)
Reference	Rs797045192(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.746246A>T
CLNSRC
CLNACC	RCV000191959.1,