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rs387906890

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906890(C;T)
Make rs387906890(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position169590743
GeneNEK1
is asnp
is mentioned by
dbSNPrs387906890
ebirs387906890
HLIrs387906890
Exacrs387906890
Varsomers387906890
Maprs387906890
PheGenIrs387906890
hapmaprs387906890
1000 genomesrs387906890
hgdprs387906890
ensemblrs387906890
gopubmedrs387906890
geneviewrs387906890
scholarrs387906890
googlers387906890
pharmgkbrs387906890
gwascentralrs387906890
openSNPrs387906890
23andMers387906890
23andMe allrs387906890
SNP Nexus

SNPshotrs387906890
SNPdbers387906890
MSV3drs387906890
GWAS Ctlgrs387906890
Max Magnitude0
ClinVar
Risk rs387906890(T;T)
Alt rs387906890(T;T)
Reference rs387906890(C;C)
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.170511894G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023381.4,