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rs587777085

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777085(A;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position27477310
GeneIFT172
is asnp
is mentioned by
dbSNPrs587777085
ebirs587777085
HLIrs587777085
Exacrs587777085
Varsomers587777085
Maprs587777085
PheGenIrs587777085
hapmaprs587777085
1000 genomesrs587777085
hgdprs587777085
ensemblrs587777085
gopubmedrs587777085
geneviewrs587777085
scholarrs587777085
googlers587777085
pharmgkbrs587777085
gwascentralrs587777085
openSNPrs587777085
23andMers587777085
23andMe allrs587777085
SNP Nexus

SNPshotrs587777085
SNPdbers587777085
MSV3drs587777085
GWAS Ctlgrs587777085
Max Magnitude0
ClinVar
Risk rs587777085(A;A)
Alt rs587777085(A;A)
Reference rs587777085(T;T)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 10 with or without polydactyly
Variation info
Gene IFT172
CLNDBN Short-rib thoracic dysplasia 10 with or without polydactyly
Reversed 1
HGVS NC_000002.11:g.27700177A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083277.4,