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rs139021548

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139021548(A;A)
Make rs139021548(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position27485431
GeneIFT172
is asnp
is mentioned by
dbSNPrs139021548
ebirs139021548
HLIrs139021548
Exacrs139021548
Varsomers139021548
Maprs139021548
PheGenIrs139021548
hapmaprs139021548
1000 genomesrs139021548
hgdprs139021548
ensemblrs139021548
gopubmedrs139021548
geneviewrs139021548
scholarrs139021548
googlers139021548
pharmgkbrs139021548
gwascentralrs139021548
openSNPrs139021548
23andMers139021548
23andMe allrs139021548
SNP Nexus

SNPshotrs139021548
SNPdbers139021548
MSV3drs139021548
GWAS Ctlgrs139021548
Max Magnitude0
ClinVar
Risk rs139021548(A,C;A,C)
Alt rs139021548(A,C;A,C)
Reference rs139021548(G;G)
Significance Probable-Pathogenic
Disease Short-rib thoracic dysplasia 10 with or without polydactyly
Variation info
Gene IFT172
CLNDBN Short-rib thoracic dysplasia 10 with or without polydactyly
Reversed 0
HGVS NC_000002.11:g.27708298G>A
CLNSRC
CLNACC RCV000190597.1,