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rs559947948

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs559947948(A;A)
Make rs559947948(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome12
Position42465210
GenePRICKLE1
is asnp
is mentioned by
dbSNPrs559947948
ebirs559947948
HLIrs559947948
Exacrs559947948
Varsomers559947948
Maprs559947948
PheGenIrs559947948
hapmaprs559947948
1000 genomesrs559947948
hgdprs559947948
ensemblrs559947948
gopubmedrs559947948
geneviewrs559947948
scholarrs559947948
googlers559947948
pharmgkbrs559947948
gwascentralrs559947948
openSNPrs559947948
23andMers559947948
23andMe allrs559947948
SNP Nexus

SNPshotrs559947948
SNPdbers559947948
MSV3drs559947948
GWAS Ctlgrs559947948
Max Magnitude0
ClinVar
Risk rs559947948(A;A)
Alt rs559947948(A;A)
Reference rs559947948(G;G)
Significance Probable-Pathogenic
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
CLNACC RCV000157058.2, RCV000188727.2,