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rs587777081

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777081(A;A)
Make rs587777081(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position27459449
GeneIFT172
is asnp
is mentioned by
dbSNPrs587777081
ebirs587777081
HLIrs587777081
Exacrs587777081
Varsomers587777081
Maprs587777081
PheGenIrs587777081
hapmaprs587777081
1000 genomesrs587777081
hgdprs587777081
ensemblrs587777081
gopubmedrs587777081
geneviewrs587777081
scholarrs587777081
googlers587777081
pharmgkbrs587777081
gwascentralrs587777081
openSNPrs587777081
23andMers587777081
23andMe allrs587777081
SNP Nexus

SNPshotrs587777081
SNPdbers587777081
MSV3drs587777081
GWAS Ctlgrs587777081
Max Magnitude0
ClinVar
Risk rs587777081(A;A)
Alt rs587777081(A;A)
Reference rs587777081(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 0
HGVS NC_000002.11:g.27682316G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000083272.4,