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rs138004478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138004478(C;G)
Make rs138004478(G;G)
ReferenceGRCh38 38.1/142
Chromosome3
Position160356069
GeneIFT80
is asnp
is mentioned by
dbSNPrs138004478
ebirs138004478
HLIrs138004478
Exacrs138004478
Varsomers138004478
Maprs138004478
PheGenIrs138004478
hapmaprs138004478
1000 genomesrs138004478
hgdprs138004478
ensemblrs138004478
gopubmedrs138004478
geneviewrs138004478
scholarrs138004478
googlers138004478
pharmgkbrs138004478
gwascentralrs138004478
openSNPrs138004478
23andMers138004478
23andMe allrs138004478
SNP Nexus

SNPshotrs138004478
SNPdbers138004478
MSV3drs138004478
GWAS Ctlgrs138004478
Max Magnitude0
ClinVar
Risk rs138004478(G,T;G,T)
Alt rs138004478(G,T;G,T)
Reference rs138004478(C;C)
Significance Pathogenic
Disease Asphyxiating thoracic dystrophy 2
Variation info
Gene IFT80
CLNDBN Asphyxiating thoracic dystrophy 2
Reversed 0
HGVS NC_000003.11:g.160073857C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000087065.3,