rs797045190

Orientation

minus

Stabilized

minus

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

765726

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs797045190
dbSNP (classic)	rs797045190
ClinGen	rs797045190
ebi	rs797045190
HLI	rs797045190
Exac	rs797045190
Gnomad	rs797045190
Varsome	rs797045190
LitVar	rs797045190
Map	rs797045190
PheGenI	rs797045190
Biobank	rs797045190
1000 genomes	rs797045190
hgdp	rs797045190
ensembl	rs797045190
geneview	rs797045190
scholar	rs797045190
google	rs797045190
pharmgkb	rs797045190
gwascentral	rs797045190
openSNP	rs797045190
23andMe	rs797045190
SNPshot	rs797045190
SNPdbe	rs797045190
MSV3d	rs797045190
GWAS Ctlg	rs797045190

Max Magnitude

8

ClinVar
Risk	Rs797045190(C;C)
Alt	Rs797045190(C;C)
Reference	Rs797045190(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.746370A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000191956.2,