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rs431905508

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs431905508(A;A)
Make rs431905508(A;G)
ReferenceGRCh38 38.1/142
Chromosome4
Position169589478
GeneNEK1
is asnp
is mentioned by
dbSNPrs431905508
ebirs431905508
HLIrs431905508
Exacrs431905508
Varsomers431905508
Maprs431905508
PheGenIrs431905508
hapmaprs431905508
1000 genomesrs431905508
hgdprs431905508
ensemblrs431905508
gopubmedrs431905508
geneviewrs431905508
scholarrs431905508
googlers431905508
pharmgkbrs431905508
gwascentralrs431905508
openSNPrs431905508
23andMers431905508
23andMe allrs431905508
SNP Nexus

SNPshotrs431905508
SNPdbers431905508
MSV3drs431905508
GWAS Ctlgrs431905508
Max Magnitude0
ClinVar
Risk rs431905508(A;A)
Alt rs431905508(A;A)
Reference rs431905508(G;G)
Significance Pathogenic
Disease Short rib-polydactyly syndrome
Variation info
Gene NEK1
CLNDBN Short rib-polydactyly syndrome, Majewski type
Reversed 1
HGVS NC_000004.11:g.170510629C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033162.3,