rs397514578

Orientation

plus

Stabilized

plus

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

Make rs397514578(C;T)

Make rs397514578(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

29813616

Gene

PRRT2

is a	snp
is	mentioned by
dbSNP	rs397514578
dbSNP (classic)	rs397514578
ClinGen	rs397514578
ebi	rs397514578
HLI	rs397514578
Exac	rs397514578
Gnomad	rs397514578
Varsome	rs397514578
LitVar	rs397514578
Map	rs397514578
PheGenI	rs397514578
Biobank	rs397514578
1000 genomes	rs397514578
hgdp	rs397514578
ensembl	rs397514578
geneview	rs397514578
scholar	rs397514578
google	rs397514578
pharmgkb	rs397514578
gwascentral	rs397514578
openSNP	rs397514578
23andMe	rs397514578
SNPshot	rs397514578
SNPdbe	rs397514578
MSV3d	rs397514578
GWAS Ctlg	rs397514578

Max Magnitude

0

ClinVar
Risk	rs397514578(T;T)
Alt	rs397514578(T;T)
Reference	Rs397514578(C;C)
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.29824937C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000032971.3,