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

rs587777084

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AATATC;AATATC) 0 common in clinvar
(GATATTA;GATATTA) 0 common in clinvar
Make rs587777084(-;-)
Make rs587777084(-;AATATC)
ReferenceGRCh38 38.1/142
Chromosome2
Position27476657
GeneIFT172
is asnp
is mentioned by
dbSNPrs587777084
ebirs587777084
HLIrs587777084
Exacrs587777084
Varsomers587777084
Maprs587777084
PheGenIrs587777084
hapmaprs587777084
1000 genomesrs587777084
hgdprs587777084
ensemblrs587777084
gopubmedrs587777084
geneviewrs587777084
scholarrs587777084
googlers587777084
pharmgkbrs587777084
gwascentralrs587777084
openSNPrs587777084
23andMers587777084
23andMe allrs587777084
SNP Nexus

SNPshotrs587777084
SNPdbers587777084
MSV3drs587777084
GWAS Ctlgrs587777084
Max Magnitude0
ClinVar
Risk rs587777084(AATATCA,A;AATATCA,A)
Alt rs587777084(AATATCA,A;AATATCA,A)
Reference rs587777084(GATATTA;GATATTA)
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.27699524_27699529delAATATC
CLNSRC OMIM Allelic Variant
CLNACC RCV000083276.4,