Have questions? Visit https://www.reddit.com/r/SNPedia

rs145541911

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs145541911(A;A)
Make rs145541911(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position27480049
GeneIFT172
is asnp
is mentioned by
dbSNPrs145541911
ebirs145541911
HLIrs145541911
Exacrs145541911
Varsomers145541911
Maprs145541911
PheGenIrs145541911
hapmaprs145541911
1000 genomesrs145541911
hgdprs145541911
ensemblrs145541911
gopubmedrs145541911
geneviewrs145541911
scholarrs145541911
googlers145541911
pharmgkbrs145541911
gwascentralrs145541911
openSNPrs145541911
23andMers145541911
23andMe allrs145541911
SNP Nexus

SNPshotrs145541911
SNPdbers145541911
MSV3drs145541911
GWAS Ctlgrs145541911
Max Magnitude0
ClinVar
Risk rs145541911(A;A)
Alt rs145541911(A;A)
Reference rs145541911(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.27702916G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000083274.4,