rs730882067

Orientation

plus

Stabilized

plus

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

Make rs730882067(-;C)

Make rs730882067(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

29813683

Gene

PRRT2

is a	snp
is	mentioned by
dbSNP	rs730882067
dbSNP (classic)	rs730882067
ClinGen	rs730882067
ebi	rs730882067
HLI	rs730882067
Exac	rs730882067
Gnomad	rs730882067
Varsome	rs730882067
LitVar	rs730882067
Map	rs730882067
PheGenI	rs730882067
Biobank	rs730882067
1000 genomes	rs730882067
hgdp	rs730882067
ensembl	rs730882067
geneview	rs730882067
scholar	rs730882067
google	rs730882067
pharmgkb	rs730882067
gwascentral	rs730882067
openSNP	rs730882067
23andMe	rs730882067
SNPshot	rs730882067
SNPdbe	rs730882067
MSV3d	rs730882067
GWAS Ctlg	rs730882067

Max Magnitude

0

ClinVar
Risk	rs730882067(C;C)
Alt	rs730882067(C;C)
Reference	Rs730882067(-;-)
Significance	Pathogenic
Disease	Infantile convulsions and paroxysmal choreoathetosis not provided
Variation	info
Gene	LOC100289283 PRRT2
CLNDBN	Infantile convulsions and paroxysmal choreoathetosis, familial not provided
Reversed	0
HGVS	NC_000016.9:g.29825004dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024169.4, RCV000188767.2,