Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853115

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853115(C;G)
Make rs137853115(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position160377485
GeneIFT80
is asnp
is mentioned by
dbSNPrs137853115
ebirs137853115
HLIrs137853115
Exacrs137853115
Varsomers137853115
Maprs137853115
PheGenIrs137853115
hapmaprs137853115
1000 genomesrs137853115
hgdprs137853115
ensemblrs137853115
gopubmedrs137853115
geneviewrs137853115
scholarrs137853115
googlers137853115
pharmgkbrs137853115
gwascentralrs137853115
openSNPrs137853115
23andMers137853115
23andMe allrs137853115
SNP Nexus

SNPshotrs137853115
SNPdbers137853115
MSV3drs137853115
GWAS Ctlgrs137853115
Max Magnitude0
OMIM611177
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853115(G;G)
Alt rs137853115(G;G)
Reference rs137853115(C;C)
Significance Pathogenic
Disease Asphyxiating thoracic dystrophy 2
Variation info
Gene IFT80
CLNDBN Asphyxiating thoracic dystrophy 2
Reversed 1
HGVS NC_000003.11:g.160095273G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000001044.3,