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rs376586707

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs376586707(A;A)
Make rs376586707(A;C)
ReferenceGRCh38 38.1/142
Chromosome16
Position1557934
GeneIFT140
is asnp
is mentioned by
dbSNPrs376586707
ebirs376586707
HLIrs376586707
Exacrs376586707
Varsomers376586707
Maprs376586707
PheGenIrs376586707
hapmaprs376586707
1000 genomesrs376586707
hgdprs376586707
ensemblrs376586707
gopubmedrs376586707
geneviewrs376586707
scholarrs376586707
googlers376586707
pharmgkbrs376586707
gwascentralrs376586707
openSNPrs376586707
23andMers376586707
23andMe allrs376586707
SNP Nexus

SNPshotrs376586707
SNPdbers376586707
MSV3drs376586707
GWAS Ctlgrs376586707
Max Magnitude0
ClinVar
Risk rs376586707(A;A)
Alt rs376586707(A;A)
Reference rs376586707(C;C)
Significance Pathogenic
Disease Renal dysplasia
Variation info
Gene IFT140
CLNDBN Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
Reversed 0
HGVS NC_000016.9:g.1607935C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024360.4,