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rs431905520

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs431905520(C;C)
Make rs431905520(C;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position1518320
GeneIFT140
is asnp
is mentioned by
dbSNPrs431905520
ebirs431905520
HLIrs431905520
Exacrs431905520
Varsomers431905520
Maprs431905520
PheGenIrs431905520
hapmaprs431905520
1000 genomesrs431905520
hgdprs431905520
ensemblrs431905520
gopubmedrs431905520
geneviewrs431905520
scholarrs431905520
googlers431905520
pharmgkbrs431905520
gwascentralrs431905520
openSNPrs431905520
23andMers431905520
23andMe allrs431905520
SNP Nexus

SNPshotrs431905520
SNPdbers431905520
MSV3drs431905520
GWAS Ctlgrs431905520
Max Magnitude0
ClinVar
Risk rs431905520(C;C)
Alt rs431905520(C;C)
Reference rs431905520(T;T)
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.1568321A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000083296.3,