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rs587777080

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777080(A;G)
Make rs587777080(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position27447567
GeneIFT172
is asnp
is mentioned by
dbSNPrs587777080
ebirs587777080
HLIrs587777080
Exacrs587777080
Varsomers587777080
Maprs587777080
PheGenIrs587777080
hapmaprs587777080
1000 genomesrs587777080
hgdprs587777080
ensemblrs587777080
gopubmedrs587777080
geneviewrs587777080
scholarrs587777080
googlers587777080
pharmgkbrs587777080
gwascentralrs587777080
openSNPrs587777080
23andMers587777080
23andMe allrs587777080
SNP Nexus

SNPshotrs587777080
SNPdbers587777080
MSV3drs587777080
GWAS Ctlgrs587777080
Max Magnitude0
ClinVar
Risk rs587777080(A,G;A,G)
Alt rs587777080(A,G;A,G)
Reference rs587777080(T;T)
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.27670434A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000083271.4,