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rs1085307074

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Chromosome16
Position1584409
GeneIFT140, LOC105371046
is asnp
is mentioned by
dbSNPrs1085307074
dbSNP (old)rs1085307074
ClinGenrs1085307074
ebirs1085307074
HLIrs1085307074
Exacrs1085307074
Gnomadrs1085307074
Varsomers1085307074
Maprs1085307074
PheGenIrs1085307074
Biobankrs1085307074
1000 genomesrs1085307074
hgdprs1085307074
ensemblrs1085307074
gopubmedrs1085307074
geneviewrs1085307074
scholarrs1085307074
googlers1085307074
pharmgkbrs1085307074
gwascentralrs1085307074
openSNPrs1085307074
23andMers1085307074
23andMe allrs1085307074
SNPshotrs1085307074
SNPdbers1085307074
MSV3drs1085307074
GWAS Ctlgrs1085307074
Max Magnitude0
ClinVar
Risk rs1085307074(-;-)
Alt rs1085307074(-;-)
Reference Rs1085307074(G;G)
Significance Probable-Pathogenic
Disease Renal dysplasia
Variation info
Gene LOC105371046 IFT140
CLNDBN Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Reversed 1
HGVS NC_000016.9:g.1634410delC
CLNSRC
CLNACC RCV000490349.1,