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rs201188361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs201188361(C;T)
Make rs201188361(T;T)
ReferenceGRCh38 38.1/142
Chromosome16
Position1592176
GeneIFT140
is asnp
is mentioned by
dbSNPrs201188361
ebirs201188361
HLIrs201188361
Exacrs201188361
Varsomers201188361
Maprs201188361
PheGenIrs201188361
hapmaprs201188361
1000 genomesrs201188361
hgdprs201188361
ensemblrs201188361
gopubmedrs201188361
geneviewrs201188361
scholarrs201188361
googlers201188361
pharmgkbrs201188361
gwascentralrs201188361
openSNPrs201188361
23andMers201188361
23andMe allrs201188361
SNP Nexus

SNPshotrs201188361
SNPdbers201188361
MSV3drs201188361
GWAS Ctlgrs201188361
Max Magnitude0
ClinVar
Risk rs201188361(T;T)
Alt rs201188361(T;T)
Reference rs201188361(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.1642177C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024363.6,