rs387907125

Orientation

plus

Stabilized

plus

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

Make rs387907125(A;A)

Make rs387907125(A;G)

Reference

GRCh38 38.1/141

Chromosome

16

Position

29814403

Gene	PAGR1, PRRT2

is a	snp
is	mentioned by
dbSNP	rs387907125
dbSNP (classic)	rs387907125
ClinGen	rs387907125
ebi	rs387907125
HLI	rs387907125
Exac	rs387907125
Gnomad	rs387907125
Varsome	rs387907125
LitVar	rs387907125
Map	rs387907125
PheGenI	rs387907125
Biobank	rs387907125
1000 genomes	rs387907125
hgdp	rs387907125
ensembl	rs387907125
geneview	rs387907125
scholar	rs387907125
google	rs387907125
pharmgkb	rs387907125
gwascentral	rs387907125
openSNP	rs387907125
23andMe	rs387907125
SNPshot	rs387907125
SNPdbe	rs387907125
MSV3d	rs387907125
GWAS Ctlg	rs387907125

Max Magnitude

0

ClinVar
Risk	rs387907125(A;A)
Alt	rs387907125(A;A)
Reference	Rs387907125(G;G)
Significance	Pathogenic
Disease	Infantile convulsions and paroxysmal choreoathetosis
Variation	info
Gene	PAGR1 PRRT2
CLNDBN	Infantile convulsions and paroxysmal choreoathetosis, familial
Reversed	0
HGVS	NC_000016.9:g.29825724G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024170.3,