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rs587777083

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777083(-;-)
Make rs587777083(-;CT)
Make rs587777083(CT;CT)
ReferenceGRCh38 38.1/142
Chromosome2
Position27470949
GeneIFT172
is asnp
is mentioned by
dbSNPrs587777083
ebirs587777083
HLIrs587777083
Exacrs587777083
Varsomers587777083
Maprs587777083
PheGenIrs587777083
hapmaprs587777083
1000 genomesrs587777083
hgdprs587777083
ensemblrs587777083
gopubmedrs587777083
geneviewrs587777083
scholarrs587777083
googlers587777083
pharmgkbrs587777083
gwascentralrs587777083
openSNPrs587777083
23andMers587777083
23andMe allrs587777083
SNP Nexus

SNPshotrs587777083
SNPdbers587777083
MSV3drs587777083
GWAS Ctlgrs587777083
Max Magnitude0
ClinVar
Risk rs587777083(CT;CT)
Alt rs587777083(CT;CT)
Reference rs587777083(;)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 10 with polydactyly
Variation info
Gene IFT172
CLNDBN Short-rib thoracic dysplasia 10 with polydactyly
Reversed 0
HGVS NC_000002.11:g.27693815_27693816dupCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000083275.4,