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rs587777078

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCTC;TCTC) 0 common in clinvar
Make rs587777078(-;-)
Make rs587777078(-;TCTC)
ReferenceGRCh38 38.1/142
Chromosome2
Position27445436
GeneIFT172, KRTCAP3
is asnp
is mentioned by
dbSNPrs587777078
ebirs587777078
HLIrs587777078
Exacrs587777078
Varsomers587777078
Maprs587777078
PheGenIrs587777078
hapmaprs587777078
1000 genomesrs587777078
hgdprs587777078
ensemblrs587777078
gopubmedrs587777078
geneviewrs587777078
scholarrs587777078
googlers587777078
pharmgkbrs587777078
gwascentralrs587777078
openSNPrs587777078
23andMers587777078
23andMe allrs587777078
SNP Nexus

SNPshotrs587777078
SNPdbers587777078
MSV3drs587777078
GWAS Ctlgrs587777078
Max Magnitude0
ClinVar
Risk rs587777078(;)
Alt rs587777078(;)
Reference rs587777078(TCTC;TCTC)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 10 without polydactyly
Variation info
Gene KRTCAP3 IFT172
CLNDBN Short-rib thoracic dysplasia 10 without polydactyly
Reversed 0
HGVS NC_000002.11:g.27668303_27668306delTCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000083269.4,