rs797045202

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a Brown-Vialetto-Van Laere syndrome type 2 mutation
(T;T)	8	Brown-Vialetto-Van Laere syndrome type 2 mutation; riboflavin treatment recommended

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

144360676

Gene

SLC52A2

is a	snp
is	mentioned by
dbSNP	rs797045202
dbSNP (classic)	rs797045202
ClinGen	rs797045202
ebi	rs797045202
HLI	rs797045202
Exac	rs797045202
Gnomad	rs797045202
Varsome	rs797045202
LitVar	rs797045202
Map	rs797045202
PheGenI	rs797045202
Biobank	rs797045202
1000 genomes	rs797045202
hgdp	rs797045202
ensembl	rs797045202
geneview	rs797045202
scholar	rs797045202
google	rs797045202
pharmgkb	rs797045202
gwascentral	rs797045202
openSNP	rs797045202
23andMe	rs797045202
SNPshot	rs797045202
SNPdbe	rs797045202
MSV3d	rs797045202
GWAS Ctlg	rs797045202

Max Magnitude

8

ClinVar
Risk	Rs797045202(T;T)
Alt	Rs797045202(T;T)
Reference	Rs797045202(C;C)
Significance	Pathogenic
Disease	Brown-Vialetto-Van Laere syndrome 2
Variation	info
Gene	SLC52A2
CLNDBN	Brown-Vialetto-Van Laere syndrome 2
Reversed	0
HGVS	NC_000008.10:g.145584336C>T
CLNSRC
CLNACC	RCV000191987.1,