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rs431905506

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTGA;TTGA) 0 common in clinvar
Make rs431905506(-;-)
Make rs431905506(-;TTGA)
ReferenceGRCh38 38.1/142
Chromosome16
Position1587975
GeneIFT140
is asnp
is mentioned by
dbSNPrs431905506
ebirs431905506
HLIrs431905506
Exacrs431905506
Varsomers431905506
Maprs431905506
PheGenIrs431905506
hapmaprs431905506
1000 genomesrs431905506
hgdprs431905506
ensemblrs431905506
gopubmedrs431905506
geneviewrs431905506
scholarrs431905506
googlers431905506
pharmgkbrs431905506
gwascentralrs431905506
openSNPrs431905506
23andMers431905506
23andMe allrs431905506
SNP Nexus

SNPshotrs431905506
SNPdbers431905506
MSV3drs431905506
GWAS Ctlgrs431905506
Max Magnitude0
ClinVar
Risk rs431905506(;)
Alt rs431905506(;)
Reference rs431905506(TTGA;TTGA)
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.1637976_1637979delTCAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000024362.3,