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rs121434513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434513(C;C)
Make rs121434513(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position218271410
GeneAAMP, PNKD
is asnp
is mentioned by
dbSNPrs121434513
ebirs121434513
HLIrs121434513
Exacrs121434513
Varsomers121434513
Maprs121434513
PheGenIrs121434513
hapmaprs121434513
1000 genomesrs121434513
hgdprs121434513
ensemblrs121434513
gopubmedrs121434513
geneviewrs121434513
scholarrs121434513
googlers121434513
pharmgkbrs121434513
gwascentralrs121434513
openSNPrs121434513
23andMers121434513
23andMe allrs121434513
SNP Nexus

SNPshotrs121434513
SNPdbers121434513
MSV3drs121434513
GWAS Ctlgrs121434513
Max Magnitude0
OMIM609023
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434513(C,T;C,T)
Alt rs121434513(C,T;C,T)
Reference rs121434513(G;G)
Significance Pathogenic
Disease Paroxysmal choreoathetosis
Variation info
Gene AAMP PNKD
CLNDBN Paroxysmal choreoathetosis
Reversed 0
HGVS NC_000002.11:g.219136133G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001971.2,