rs730882068

Orientation

plus

Stabilized

plus

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

Make rs730882068(-;T)

Make rs730882068(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

16

Position

29813570

Gene

PRRT2

is a	snp
is	mentioned by
dbSNP	rs730882068
dbSNP (classic)	rs730882068
ClinGen	rs730882068
ebi	rs730882068
HLI	rs730882068
Exac	rs730882068
Gnomad	rs730882068
Varsome	rs730882068
LitVar	rs730882068
Map	rs730882068
PheGenI	rs730882068
Biobank	rs730882068
1000 genomes	rs730882068
hgdp	rs730882068
ensembl	rs730882068
geneview	rs730882068
scholar	rs730882068
google	rs730882068
pharmgkb	rs730882068
gwascentral	rs730882068
openSNP	rs730882068
23andMe	rs730882068
SNPshot	rs730882068
SNPdbe	rs730882068
MSV3d	rs730882068
GWAS Ctlg	rs730882068

Max Magnitude

0

ClinVar
Risk	rs730882068(T;T)
Alt	rs730882068(T;T)
Reference	Rs730882068(-;-)
Significance	Pathogenic
Disease	Infantile convulsions and paroxysmal choreoathetosis
Variation	info
Gene	LOC100289283 PRRT2
CLNDBN	Infantile convulsions and paroxysmal choreoathetosis, familial
Reversed	0
HGVS	NC_000016.9:g.29824891dupT
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024173.4,