rs772994486

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar
(G;G)	0	common in clinvar

Make rs772994486(-;C)

Make rs772994486(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

16

Position

29813694

Gene

PRRT2

is a	snp
is	mentioned by
dbSNP	rs772994486
dbSNP (classic)	rs772994486
ClinGen	rs772994486
ebi	rs772994486
HLI	rs772994486
Exac	rs772994486
Gnomad	rs772994486
Varsome	rs772994486
LitVar	rs772994486
Map	rs772994486
PheGenI	rs772994486
Biobank	rs772994486
1000 genomes	rs772994486
hgdp	rs772994486
ensembl	rs772994486
geneview	rs772994486
scholar	rs772994486
google	rs772994486
pharmgkb	rs772994486
gwascentral	rs772994486
openSNP	rs772994486
23andMe	rs772994486
SNPshot	rs772994486
SNPdbe	rs772994486
MSV3d	rs772994486
GWAS Ctlg	rs772994486

Max Magnitude

0

ClinVar
Risk	rs772994486(C;C) rs772994486(CC;CC)
Alt	rs772994486(C;C) rs772994486(CC;CC)
Reference	Rs772994486(-;-)
Significance	Pathogenic
Disease	Dystonia 10 Infantile convulsions and paroxysmal choreoathetosis not provided Seizures
Variation	info
Gene	LOC100289283 PRRT2
CLNDBN	Dystonia 10 Infantile convulsions and paroxysmal choreoathetosis, familial not provided Seizures
Reversed	0
HGVS	NC_000016.9:g.29825024dupC
CLNSRC
CLNACC	RCV000055991.4, RCV000153783.3, RCV000188779.4, RCV000193894.1,