rs797045198

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

761181

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs797045198
dbSNP (classic)	rs797045198
ClinGen	rs797045198
ebi	rs797045198
HLI	rs797045198
Exac	rs797045198
Gnomad	rs797045198
Varsome	rs797045198
LitVar	rs797045198
Map	rs797045198
PheGenI	rs797045198
Biobank	rs797045198
1000 genomes	rs797045198
hgdp	rs797045198
ensembl	rs797045198
geneview	rs797045198
scholar	rs797045198
google	rs797045198
pharmgkb	rs797045198
gwascentral	rs797045198
openSNP	rs797045198
23andMe	rs797045198
SNPshot	rs797045198
SNPdbe	rs797045198
MSV3d	rs797045198
GWAS Ctlg	rs797045198

Max Magnitude

8

ClinVar
Risk	Rs797045198(A;A)
Alt	Rs797045198(A;A)
Reference	Rs797045198(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.741825C>T
CLNSRC
CLNACC	RCV000191980.1,