rs797045194

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/147

Chromosome

20

Position

763912

Gene

SLC52A3

is a	snp
is	mentioned by
dbSNP	rs797045194
dbSNP (classic)	rs797045194
ClinGen	rs797045194
ebi	rs797045194
HLI	rs797045194
Exac	rs797045194
Gnomad	rs797045194
Varsome	rs797045194
LitVar	rs797045194
Map	rs797045194
PheGenI	rs797045194
Biobank	rs797045194
1000 genomes	rs797045194
hgdp	rs797045194
ensembl	rs797045194
geneview	rs797045194
scholar	rs797045194
google	rs797045194
pharmgkb	rs797045194
gwascentral	rs797045194
openSNP	rs797045194
23andMe	rs797045194
SNPshot	rs797045194
SNPdbe	rs797045194
MSV3d	rs797045194
GWAS Ctlg	rs797045194

Max Magnitude

8

ClinVar
Risk	Rs797045194(A;A)
Alt	Rs797045194(A;A)
Reference	Rs797045194(C;C)
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.744556G>T
CLNSRC
CLNACC	RCV000191964.1,