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rs431905521

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs431905521(A;A)
Make rs431905521(A;G)
ReferenceGRCh38 38.1/142
Chromosome16
Position1587961
GeneIFT140
is asnp
is mentioned by
dbSNPrs431905521
ebirs431905521
HLIrs431905521
Exacrs431905521
Varsomers431905521
Maprs431905521
PheGenIrs431905521
hapmaprs431905521
1000 genomesrs431905521
hgdprs431905521
ensemblrs431905521
gopubmedrs431905521
geneviewrs431905521
scholarrs431905521
googlers431905521
pharmgkbrs431905521
gwascentralrs431905521
openSNPrs431905521
23andMers431905521
23andMe allrs431905521
SNP Nexus

SNPshotrs431905521
SNPdbers431905521
MSV3drs431905521
GWAS Ctlgrs431905521
Max Magnitude0
ClinVar
Risk rs431905521(A;A)
Alt rs431905521(A;A)
Reference rs431905521(G;G)
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.1637962C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083297.3,