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

rs149614625

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs149614625(A;G)
Make rs149614625(G;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position27444503
GeneIFT172, KRTCAP3
is asnp
is mentioned by
dbSNPrs149614625
ebirs149614625
HLIrs149614625
Exacrs149614625
Varsomers149614625
Maprs149614625
PheGenIrs149614625
hapmaprs149614625
1000 genomesrs149614625
hgdprs149614625
ensemblrs149614625
gopubmedrs149614625
geneviewrs149614625
scholarrs149614625
googlers149614625
pharmgkbrs149614625
gwascentralrs149614625
openSNPrs149614625
23andMers149614625
23andMe allrs149614625
SNP Nexus

SNPshotrs149614625
SNPdbers149614625
MSV3drs149614625
GWAS Ctlgrs149614625
Max Magnitude0
ClinVar
Risk rs149614625(G;G)
Alt rs149614625(G;G)
Reference rs149614625(A;A)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 10 with or without polydactyly
Variation info
Gene KRTCAP3 IFT172
CLNDBN Short-rib thoracic dysplasia 10 with or without polydactyly
Reversed 0
HGVS NC_000002.11:g.27667370A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000083268.4,