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rs199826737

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199826737(C;T)
Make rs199826737(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position1571494
GeneIFT140
is asnp
is mentioned by
dbSNPrs199826737
ebirs199826737
HLIrs199826737
Exacrs199826737
Varsomers199826737
Maprs199826737
PheGenIrs199826737
hapmaprs199826737
1000 genomesrs199826737
hgdprs199826737
ensemblrs199826737
gopubmedrs199826737
geneviewrs199826737
scholarrs199826737
googlers199826737
pharmgkbrs199826737
gwascentralrs199826737
openSNPrs199826737
23andMers199826737
23andMe allrs199826737
SNP Nexus

SNPshotrs199826737
SNPdbers199826737
MSV3drs199826737
GWAS Ctlgrs199826737
Max Magnitude0
ClinVar
Risk rs199826737(T;T)
Alt rs199826737(T;T)
Reference rs199826737(C;C)
Significance Pathogenic
Disease Short-rib thoracic dysplasia without polydactyly
Variation info
Gene IFT140
CLNDBN Short-rib thoracic dysplasia without polydactyly
Reversed 0
HGVS NC_000016.9:g.1621495C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083298.3,