rs397514579

Orientation

plus

Stabilized

plus

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

Make rs397514579(C;T)

Make rs397514579(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

29813802

Gene

PRRT2

is a	snp
is	mentioned by
dbSNP	rs397514579
dbSNP (classic)	rs397514579
ClinGen	rs397514579
ebi	rs397514579
HLI	rs397514579
Exac	rs397514579
Gnomad	rs397514579
Varsome	rs397514579
LitVar	rs397514579
Map	rs397514579
PheGenI	rs397514579
Biobank	rs397514579
1000 genomes	rs397514579
hgdp	rs397514579
ensembl	rs397514579
geneview	rs397514579
scholar	rs397514579
google	rs397514579
pharmgkb	rs397514579
gwascentral	rs397514579
openSNP	rs397514579
23andMe	rs397514579
SNPshot	rs397514579
SNPdbe	rs397514579
MSV3d	rs397514579
GWAS Ctlg	rs397514579

Max Magnitude

0

ClinVar
Risk	rs397514579(T;T)
Alt	rs397514579(T;T)
Reference	Rs397514579(C;C)
Significance	Pathogenic
Disease	Dystonia 10 Seizures
Variation	info
Gene	LOC100289283 PRRT2
CLNDBN	Dystonia 10 Seizures, benign familial infantile, 2
Reversed	0
HGVS	NC_000016.9:g.29825123C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032974.3, RCV000032975.3,