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rs587777079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777079(A;A)
Make rs587777079(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position27447544
GeneIFT172
is asnp
is mentioned by
dbSNPrs587777079
ebirs587777079
HLIrs587777079
Exacrs587777079
Varsomers587777079
Maprs587777079
PheGenIrs587777079
hapmaprs587777079
1000 genomesrs587777079
hgdprs587777079
ensemblrs587777079
gopubmedrs587777079
geneviewrs587777079
scholarrs587777079
googlers587777079
pharmgkbrs587777079
gwascentralrs587777079
openSNPrs587777079
23andMers587777079
23andMe allrs587777079
SNP Nexus

SNPshotrs587777079
SNPdbers587777079
MSV3drs587777079
GWAS Ctlgrs587777079
Max Magnitude0
ClinVar
Risk rs587777079(A;A)
Alt rs587777079(A;A)
Reference rs587777079(G;G)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 10 with or without polydactyly Joubert syndrome
Variation info
Gene IFT172
CLNDBN Short-rib thoracic dysplasia 10 with or without polydactyly Joubert syndrome
Reversed 0
HGVS NC_000002.11:g.27670411G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000083270.4, RCV000201713.1,