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rs797045119

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs797045119(C;G)
Make rs797045119(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position58428458
GeneKIAA0586, TIMM9
is asnp
is mentioned by
dbSNPrs797045119
ebirs797045119
HLIrs797045119
Exacrs797045119
Varsomers797045119
Maprs797045119
PheGenIrs797045119
hapmaprs797045119
1000 genomesrs797045119
hgdprs797045119
ensemblrs797045119
gopubmedrs797045119
geneviewrs797045119
scholarrs797045119
googlers797045119
pharmgkbrs797045119
gwascentralrs797045119
openSNPrs797045119
23andMers797045119
23andMe allrs797045119
SNP Nexus

SNPshotrs797045119
SNPdbers797045119
MSV3drs797045119
GWAS Ctlgrs797045119
Max Magnitude0
ClinVar
Risk rs797045119(G;G)
Alt rs797045119(G;G)
Reference rs797045119(C;C)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 14 with polydactyly
Variation info
Gene KIAA0586 TIMM9
CLNDBN Short-rib thoracic dysplasia 14 with polydactyly
Reversed 0
HGVS NC_000014.8:g.58895176C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000190840.2,