{{Rsnum
|rsid=387906890
|Chromosome=4
|position=169590743
|Orientation=minus
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene=NEK1
|Gene_s=NEK1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|ALT=A
|CHROM=4
|CLNACC=RCV000023381.2
|CLNALLE=1
|CLNDBN=Short rib-polydactyly syndrome, Majewski type
|CLNDSDB=MedGen:OMIM:SNOMED_CT
|CLNDSDBID=C0024507:263520:72922008
|CLNHGVS=NC_000004.11:g.170511894G>A
|CLNSIG=5
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=604588.0001
|Disease=Short rib-polydactyly syndrome
|FwdALT=T
|FwdREF=C
|REF=G
|RSPOS=170511894
|Reversed=1
|SAO=0
|SSR=0
|Tags=RV;PM;OTHERKG;LSD;OM
|VC=SNV
|VP=0x050060000000000002110100
|WGT=0
|dbSNPBuildID=137
|rsid=387906890
|GENEINFO=NEK1:4750
|GENE_ID=4750
|GENE_NAME=NEK1
}}