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rs138081429

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs138081429(C;C)
Make rs138081429(C;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position160319848
GeneIFT80
is asnp
is mentioned by
dbSNPrs138081429
ebirs138081429
HLIrs138081429
Exacrs138081429
Varsomers138081429
Maprs138081429
PheGenIrs138081429
hapmaprs138081429
1000 genomesrs138081429
hgdprs138081429
ensemblrs138081429
gopubmedrs138081429
geneviewrs138081429
scholarrs138081429
googlers138081429
pharmgkbrs138081429
gwascentralrs138081429
openSNPrs138081429
23andMers138081429
23andMe allrs138081429
SNP Nexus

SNPshotrs138081429
SNPdbers138081429
MSV3drs138081429
GWAS Ctlgrs138081429
Max Magnitude0
ClinVar
Risk rs138081429(C;C)
Alt rs138081429(C;C)
Reference rs138081429(T;T)
Significance Probable-Pathogenic
Disease Asphyxiating thoracic dystrophy 2
Variation info
Gene IFT80
CLNDBN Asphyxiating thoracic dystrophy 2
Reversed 0
HGVS NC_000003.11:g.160037636T>C
CLNSRC
CLNACC RCV000184040.1,