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rs794727032

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727032(G;T)
Make rs794727032(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position169577080
GeneNEK1
is asnp
is mentioned by
dbSNPrs794727032
ebirs794727032
HLIrs794727032
Exacrs794727032
Varsomers794727032
Maprs794727032
PheGenIrs794727032
hapmaprs794727032
1000 genomesrs794727032
hgdprs794727032
ensemblrs794727032
gopubmedrs794727032
geneviewrs794727032
scholarrs794727032
googlers794727032
pharmgkbrs794727032
gwascentralrs794727032
openSNPrs794727032
23andMers794727032
23andMe allrs794727032
SNP Nexus

SNPshotrs794727032
SNPdbers794727032
MSV3drs794727032
GWAS Ctlgrs794727032
Max Magnitude0
ClinVar
Risk rs794727032(T;T)
Alt rs794727032(T;T)
Reference rs794727032(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.170498231C>A
CLNSRC
CLNACC RCV000174122.1,