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rs794727473

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794727473(C;T)
Make rs794727473(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position1519930
GeneIFT140
is asnp
is mentioned by
dbSNPrs794727473
ebirs794727473
HLIrs794727473
Exacrs794727473
Varsomers794727473
Maprs794727473
PheGenIrs794727473
hapmaprs794727473
1000 genomesrs794727473
hgdprs794727473
ensemblrs794727473
gopubmedrs794727473
geneviewrs794727473
scholarrs794727473
googlers794727473
pharmgkbrs794727473
gwascentralrs794727473
openSNPrs794727473
23andMers794727473
23andMe allrs794727473
SNP Nexus

SNPshotrs794727473
SNPdbers794727473
MSV3drs794727473
GWAS Ctlgrs794727473
Max Magnitude0
ClinVar
Risk rs794727473(T;T)
Alt rs794727473(T;T)
Reference rs794727473(C;C)
Significance Pathogenic
Disease Renal dysplasia
Variation info
Gene IFT140
CLNDBN Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Reversed 1
HGVS NC_000016.9:g.1569931G>A
CLNSRC
CLNACC RCV000176940.1,