rs559947948

Orientation

plus

Stabilized

plus

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

Make rs559947948(A;A)

Make rs559947948(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

12

Position

42465210

Gene

PRICKLE1

is a	snp
is	mentioned by
dbSNP	rs559947948
dbSNP (classic)	rs559947948
ClinGen	rs559947948
ebi	rs559947948
HLI	rs559947948
Exac	rs559947948
Gnomad	rs559947948
Varsome	rs559947948
LitVar	rs559947948
Map	rs559947948
PheGenI	rs559947948
Biobank	rs559947948
1000 genomes	rs559947948
hgdp	rs559947948
ensembl	rs559947948
geneview	rs559947948
scholar	rs559947948
google	rs559947948
pharmgkb	rs559947948
gwascentral	rs559947948
openSNP	rs559947948
23andMe	rs559947948
SNPshot	rs559947948
SNPdbe	rs559947948
MSV3d	rs559947948
GWAS Ctlg	rs559947948

Max Magnitude

0

ClinVar
Risk	rs559947948(A;A)
Alt	rs559947948(A;A)
Reference	Rs559947948(G;G)
Significance	Other
Disease	Progressive myoclonus epilepsy with ataxia not specified
Variation	info
Gene	PRICKLE1
CLNDBN	Progressive myoclonus epilepsy with ataxia not specified
Reversed	0
HGVS	NC_000012.11:g.42859012G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000157058.2, RCV000188727.3,