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rs121434511

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434511(C;T)
Make rs121434511(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218270561
GeneAAMP, PNKD
is asnp
is mentioned by
dbSNPrs121434511
ebirs121434511
HLIrs121434511
Exacrs121434511
Varsomers121434511
Maprs121434511
PheGenIrs121434511
hapmaprs121434511
1000 genomesrs121434511
hgdprs121434511
ensemblrs121434511
gopubmedrs121434511
geneviewrs121434511
scholarrs121434511
googlers121434511
pharmgkbrs121434511
gwascentralrs121434511
openSNPrs121434511
23andMers121434511
23andMe allrs121434511
SNP Nexus

SNPshotrs121434511
SNPdbers121434511
MSV3drs121434511
GWAS Ctlgrs121434511
Max Magnitude0
OMIM609023
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434511(T;T)
Alt rs121434511(T;T)
Reference rs121434511(C;C)
Significance Pathogenic
Disease Paroxysmal choreoathetosis
Variation info
Gene AAMP PNKD
CLNDBN Paroxysmal choreoathetosis
Reversed 0
HGVS NC_000002.11:g.219135284C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001969.2,