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rs587777082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777082(C;T)
Make rs587777082(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position27457638
GeneIFT172
is asnp
is mentioned by
dbSNPrs587777082
ebirs587777082
HLIrs587777082
Exacrs587777082
Varsomers587777082
Maprs587777082
PheGenIrs587777082
hapmaprs587777082
1000 genomesrs587777082
hgdprs587777082
ensemblrs587777082
gopubmedrs587777082
geneviewrs587777082
scholarrs587777082
googlers587777082
pharmgkbrs587777082
gwascentralrs587777082
openSNPrs587777082
23andMers587777082
23andMe allrs587777082
SNP Nexus

SNPshotrs587777082
SNPdbers587777082
MSV3drs587777082
GWAS Ctlgrs587777082
Max Magnitude0
ClinVar
Risk rs587777082(C,T;C,T)
Alt rs587777082(C,T;C,T)
Reference rs587777082(G;G)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 10 without polydactyly
Variation info
Gene IFT172
CLNDBN Short-rib thoracic dysplasia 10 without polydactyly
Reversed 1
HGVS NC_000002.11:g.27680505C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083273.4,