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rs387907192

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907192(A;A)
Make rs387907192(A;G)
ReferenceGRCh38 38.1/141
Chromosome16
Position1564074
GeneIFT140
is asnp
is mentioned by
dbSNPrs387907192
ebirs387907192
HLIrs387907192
Exacrs387907192
Varsomers387907192
Maprs387907192
PheGenIrs387907192
hapmaprs387907192
1000 genomesrs387907192
hgdprs387907192
ensemblrs387907192
gopubmedrs387907192
geneviewrs387907192
scholarrs387907192
googlers387907192
pharmgkbrs387907192
gwascentralrs387907192
openSNPrs387907192
23andMers387907192
23andMe allrs387907192
SNP Nexus

SNPshotrs387907192
SNPdbers387907192
MSV3drs387907192
GWAS Ctlgrs387907192
Max Magnitude0
ClinVar
Risk rs387907192(A;A)
Alt rs387907192(A;A)
Reference rs387907192(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.1614075C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000024359.5,