rs281865563

Orientation

minus

Stabilized

minus

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

Make rs281865563(A;A)

Make rs281865563(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

42468783

Gene

PRICKLE1

is a	snp
is	mentioned by
dbSNP	rs281865563
dbSNP (classic)	rs281865563
ClinGen	rs281865563
ebi	rs281865563
HLI	rs281865563
Exac	rs281865563
Gnomad	rs281865563
Varsome	rs281865563
LitVar	rs281865563
Map	rs281865563
PheGenI	rs281865563
Biobank	rs281865563
1000 genomes	rs281865563
hgdp	rs281865563
ensembl	rs281865563
geneview	rs281865563
scholar	rs281865563
google	rs281865563
pharmgkb	rs281865563
gwascentral	rs281865563
openSNP	rs281865563
23andMe	rs281865563
SNPshot	rs281865563
SNPdbe	rs281865563
MSV3d	rs281865563
GWAS Ctlg	rs281865563

Max Magnitude

0

ClinVar
Risk	rs281865563(A;A)
Alt	rs281865563(A;A)
Reference	Rs281865563(G;G)
Significance	Pathogenic
Disease	Progressive myoclonus epilepsy with ataxia not specified
Variation	info
Gene	PRICKLE1
CLNDBN	Progressive myoclonus epilepsy with ataxia not specified
Reversed	1
HGVS	NC_000012.11:g.42862585C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023707.5, RCV000188738.1,