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rs483352907

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs483352907(-;-)
Make rs483352907(-;A)
Make rs483352907(A;A)
ReferenceGRCh38 38.1/142
Chromosome4
Position169537833
GeneNEK1
is asnp
is mentioned by
dbSNPrs483352907
ebirs483352907
HLIrs483352907
Exacrs483352907
Varsomers483352907
Maprs483352907
PheGenIrs483352907
hapmaprs483352907
1000 genomesrs483352907
hgdprs483352907
ensemblrs483352907
gopubmedrs483352907
geneviewrs483352907
scholarrs483352907
googlers483352907
pharmgkbrs483352907
gwascentralrs483352907
openSNPrs483352907
23andMers483352907
23andMe allrs483352907
SNP Nexus

SNPshotrs483352907
SNPdbers483352907
MSV3drs483352907
GWAS Ctlgrs483352907
Max Magnitude0
ClinVar
Risk rs483352907(A;A)
Alt rs483352907(A;A)
Reference rs483352907(;)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 3 with or without polydactyly
Variation info
Gene NEK1
CLNDBN Short-rib thoracic dysplasia 3 with or without polydactyly
Reversed 1
HGVS NC_000004.11:g.170458985dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023383.3,