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rs142859694

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs142859694(C;T)
Make rs142859694(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position75097231
GeneNEK9
is asnp
is mentioned by
dbSNPrs142859694
ebirs142859694
HLIrs142859694
Exacrs142859694
Varsomers142859694
Maprs142859694
PheGenIrs142859694
hapmaprs142859694
1000 genomesrs142859694
hgdprs142859694
ensemblrs142859694
gopubmedrs142859694
geneviewrs142859694
scholarrs142859694
googlers142859694
pharmgkbrs142859694
gwascentralrs142859694
openSNPrs142859694
23andMers142859694
23andMe allrs142859694
SNP Nexus

SNPshotrs142859694
SNPdbers142859694
MSV3drs142859694
GWAS Ctlgrs142859694
Max Magnitude0
ClinVar
Risk rs142859694(T;T)
Alt rs142859694(T;T)
Reference rs142859694(C;C)
Significance Pathogenic
Disease Arthrogryposis
Variation info
Gene NEK9
CLNDBN Arthrogryposis, perthes disease, and upward gaze palsy
Reversed 0
HGVS NC_000014.8:g.75563934C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000234928.1,