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rs431905522

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs431905522(-;-)
Make rs431905522(-;C)
ReferenceGRCh38 38.1/142
Chromosome16
Position1583366
GeneIFT140
is asnp
is mentioned by
dbSNPrs431905522
ebirs431905522
HLIrs431905522
Exacrs431905522
Varsomers431905522
Maprs431905522
PheGenIrs431905522
hapmaprs431905522
1000 genomesrs431905522
hgdprs431905522
ensemblrs431905522
gopubmedrs431905522
geneviewrs431905522
scholarrs431905522
googlers431905522
pharmgkbrs431905522
gwascentralrs431905522
openSNPrs431905522
23andMers431905522
23andMe allrs431905522
SNP Nexus

SNPshotrs431905522
SNPdbers431905522
MSV3drs431905522
GWAS Ctlgrs431905522
Max Magnitude0
ClinVar
Risk rs431905522(;)
Alt rs431905522(;)
Reference rs431905522(C;C)
Significance Pathogenic
Disease Short-rib thoracic dysplasia without polydactyly
Variation info
Gene IFT140
CLNDBN Short-rib thoracic dysplasia without polydactyly
Reversed 1
HGVS NC_000016.9:g.1633367delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000083299.3,