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rs587777087

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777087(A;A)
Make rs587777087(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position27453428
GeneIFT172
is asnp
is mentioned by
dbSNPrs587777087
ebirs587777087
HLIrs587777087
Exacrs587777087
Varsomers587777087
Maprs587777087
PheGenIrs587777087
hapmaprs587777087
1000 genomesrs587777087
hgdprs587777087
ensemblrs587777087
gopubmedrs587777087
geneviewrs587777087
scholarrs587777087
googlers587777087
pharmgkbrs587777087
gwascentralrs587777087
openSNPrs587777087
23andMers587777087
23andMe allrs587777087
SNP Nexus

SNPshotrs587777087
SNPdbers587777087
MSV3drs587777087
GWAS Ctlgrs587777087
Max Magnitude0
ClinVar
Risk rs587777087(A,G;A,G)
Alt rs587777087(A,G;A,G)
Reference rs587777087(C;C)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 10 with polydactyly
Variation info
Gene IFT172
CLNDBN Short-rib thoracic dysplasia 10 with polydactyly
Reversed 1
HGVS NC_000002.11:g.27676295G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000083279.4,