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rs794727285

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727285(A;A)
Make rs794727285(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position169602513
GeneNEK1
is asnp
is mentioned by
dbSNPrs794727285
ebirs794727285
HLIrs794727285
Exacrs794727285
Varsomers794727285
Maprs794727285
PheGenIrs794727285
hapmaprs794727285
1000 genomesrs794727285
hgdprs794727285
ensemblrs794727285
gopubmedrs794727285
geneviewrs794727285
scholarrs794727285
googlers794727285
pharmgkbrs794727285
gwascentralrs794727285
openSNPrs794727285
23andMers794727285
23andMe allrs794727285
SNP Nexus

SNPshotrs794727285
SNPdbers794727285
MSV3drs794727285
GWAS Ctlgrs794727285
Max Magnitude0
ClinVar
Risk rs794727285(A;A)
Alt rs794727285(A;A)
Reference rs794727285(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.170523664C>T
CLNSRC
CLNACC RCV000175848.1,