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rs121434512

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434512(C;T)
Make rs121434512(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position218270555
GeneAAMP, PNKD
is asnp
is mentioned by
dbSNPrs121434512
ebirs121434512
HLIrs121434512
Exacrs121434512
Varsomers121434512
Maprs121434512
PheGenIrs121434512
hapmaprs121434512
1000 genomesrs121434512
hgdprs121434512
ensemblrs121434512
gopubmedrs121434512
geneviewrs121434512
scholarrs121434512
googlers121434512
pharmgkbrs121434512
gwascentralrs121434512
openSNPrs121434512
23andMers121434512
23andMe allrs121434512
SNP Nexus

SNPshotrs121434512
SNPdbers121434512
MSV3drs121434512
GWAS Ctlgrs121434512
Max Magnitude0
OMIM609023
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434512(T;T)
Alt rs121434512(T;T)
Reference rs121434512(C;C)
Significance Pathogenic
Disease Paroxysmal choreoathetosis
Variation info
Gene AAMP PNKD
CLNDBN Paroxysmal choreoathetosis
Reversed 0
HGVS NC_000002.11:g.219135278C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001970.2,