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rs387907193

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387907193(A;G)
Make rs387907193(G;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position1587275
GeneIFT140
is asnp
is mentioned by
dbSNPrs387907193
ebirs387907193
HLIrs387907193
Exacrs387907193
Varsomers387907193
Maprs387907193
PheGenIrs387907193
hapmaprs387907193
1000 genomesrs387907193
hgdprs387907193
ensemblrs387907193
gopubmedrs387907193
geneviewrs387907193
scholarrs387907193
googlers387907193
pharmgkbrs387907193
gwascentralrs387907193
openSNPrs387907193
23andMers387907193
23andMe allrs387907193
SNP Nexus

SNPshotrs387907193
SNPdbers387907193
MSV3drs387907193
GWAS Ctlgrs387907193
Max Magnitude0
ClinVar
Risk rs387907193(G;G)
Alt rs387907193(G;G)
Reference rs387907193(A;A)
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.1637276T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000024361.5,