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rs199947197

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199947197(C;C)
Make rs199947197(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position169424668
GeneNEK1
is asnp
is mentioned by
dbSNPrs199947197
ebirs199947197
HLIrs199947197
Exacrs199947197
Varsomers199947197
Maprs199947197
PheGenIrs199947197
hapmaprs199947197
1000 genomesrs199947197
hgdprs199947197
ensemblrs199947197
gopubmedrs199947197
geneviewrs199947197
scholarrs199947197
googlers199947197
pharmgkbrs199947197
gwascentralrs199947197
openSNPrs199947197
23andMers199947197
23andMe allrs199947197
SNP Nexus

SNPshotrs199947197
SNPdbers199947197
MSV3drs199947197
GWAS Ctlgrs199947197
Max Magnitude0
ClinVar
Risk rs199947197(C;C)
Alt rs199947197(C;C)
Reference rs199947197(G;G)
Significance Probable-Pathogenic
Disease Short rib-polydactyly syndrome
Variation info
Gene NEK1
CLNDBN Short rib-polydactyly syndrome, Majewski type
Reversed 0
HGVS NC_000004.11:g.170345819G>C
CLNSRC
CLNACC RCV000190609.1,