rs794728004

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

761110

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs794728004
dbSNP (classic)	rs794728004
ClinGen	rs794728004
ebi	rs794728004
HLI	rs794728004
Exac	rs794728004
Gnomad	rs794728004
Varsome	rs794728004
LitVar	rs794728004
Map	rs794728004
PheGenI	rs794728004
Biobank	rs794728004
1000 genomes	rs794728004
hgdp	rs794728004
ensembl	rs794728004
geneview	rs794728004
scholar	rs794728004
google	rs794728004
pharmgkb	rs794728004
gwascentral	rs794728004
openSNP	rs794728004
23andMe	rs794728004
SNPshot	rs794728004
SNPdbe	rs794728004
MSV3d	rs794728004
GWAS Ctlg	rs794728004

Max Magnitude

8

ClinVar
Risk	Rs794728004(-;-)
Alt	Rs794728004(-;-)
Reference	Rs794728004(TC;TC)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 1 not provided
Variation	info
Gene	SLC52A3
CLNDBN	Brown-Vialetto-Van Laere syndrome 1 not provided
Reversed	1
HGVS	NC_000020.10:g.741754_741755delGA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000162.3, RCV000494398.1,