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rs431905497

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TAT;TAT) 0 common in clinvar
Make rs431905497(-;-)
Make rs431905497(-;TTA)
Make rs431905497(TTA;TTA)
ReferenceGRCh38 38.1/142
Chromosome3
Position160280684
GeneIFT80
is asnp
is mentioned by
dbSNPrs431905497
ebirs431905497
HLIrs431905497
Exacrs431905497
Varsomers431905497
Maprs431905497
PheGenIrs431905497
hapmaprs431905497
1000 genomesrs431905497
hgdprs431905497
ensemblrs431905497
gopubmedrs431905497
geneviewrs431905497
scholarrs431905497
googlers431905497
pharmgkbrs431905497
gwascentralrs431905497
openSNPrs431905497
23andMers431905497
23andMe allrs431905497
SNP Nexus

SNPshotrs431905497
SNPdbers431905497
MSV3drs431905497
GWAS Ctlgrs431905497
Max Magnitude0
ClinVar
Risk rs431905497(;)
Alt rs431905497(;)
Reference rs431905497(TAT;TAT)
Significance Pathogenic
Disease Asphyxiating thoracic dystrophy 2
Variation info
Gene IFT80
CLNDBN Asphyxiating thoracic dystrophy 2
Reversed 1
HGVS NC_000003.11:g.159998472_159998474delTAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001045.3,