rs387907127

Orientation

plus

Stabilized

plus

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

Make rs387907127(C;T)

Make rs387907127(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

29813541

Gene

PRRT2

is a	snp
is	mentioned by
dbSNP	rs387907127
dbSNP (classic)	rs387907127
ClinGen	rs387907127
ebi	rs387907127
HLI	rs387907127
Exac	rs387907127
Gnomad	rs387907127
Varsome	rs387907127
LitVar	rs387907127
Map	rs387907127
PheGenI	rs387907127
Biobank	rs387907127
1000 genomes	rs387907127
hgdp	rs387907127
ensembl	rs387907127
geneview	rs387907127
scholar	rs387907127
google	rs387907127
pharmgkb	rs387907127
gwascentral	rs387907127
openSNP	rs387907127
23andMe	rs387907127
SNPshot	rs387907127
SNPdbe	rs387907127
MSV3d	rs387907127
GWAS Ctlg	rs387907127

Max Magnitude

0

ClinVar
Risk	rs387907127(T;T)
Alt	rs387907127(T;T)
Reference	Rs387907127(C;C)
Significance	Pathogenic
Disease	Dystonia 10 Infantile convulsions and paroxysmal choreoathetosis
Variation	info
Gene	LOC100289283 PRRT2
CLNDBN	Dystonia 10 Infantile convulsions and paroxysmal choreoathetosis, familial
Reversed	0
HGVS	NC_000016.9:g.29824862C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000024174.3, RCV000024175.3,