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rs137853116

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853116(C;C)
Make rs137853116(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position160268535
GeneIFT80
is asnp
is mentioned by
dbSNPrs137853116
ebirs137853116
HLIrs137853116
Exacrs137853116
Varsomers137853116
Maprs137853116
PheGenIrs137853116
hapmaprs137853116
1000 genomesrs137853116
hgdprs137853116
ensemblrs137853116
gopubmedrs137853116
geneviewrs137853116
scholarrs137853116
googlers137853116
pharmgkbrs137853116
gwascentralrs137853116
openSNPrs137853116
23andMers137853116
23andMe allrs137853116
SNP Nexus

SNPshotrs137853116
SNPdbers137853116
MSV3drs137853116
GWAS Ctlgrs137853116
Max Magnitude0
OMIM611177
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137853116(C;C)
Alt rs137853116(C;C)
Reference rs137853116(G;G)
Significance Pathogenic
Disease Asphyxiating thoracic dystrophy 2
Variation info
Gene IFT80
CLNDBN Asphyxiating thoracic dystrophy 2
Reversed 1
HGVS NC_000003.11:g.159986323C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001046.3,