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rs755338872

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs755338872(-;-)
Make rs755338872(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position103154501
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs755338872
dbSNP (classic)rs755338872
ClinGenrs755338872
ebirs755338872
HLIrs755338872
Exacrs755338872
Gnomadrs755338872
Varsomers755338872
LitVarrs755338872
Maprs755338872
PheGenIrs755338872
Biobankrs755338872
1000 genomesrs755338872
hgdprs755338872
ensemblrs755338872
geneviewrs755338872
scholarrs755338872
googlers755338872
pharmgkbrs755338872
gwascentralrs755338872
openSNPrs755338872
23andMers755338872
SNPshotrs755338872
SNPdbers755338872
MSV3drs755338872
GWAS Ctlgrs755338872
Max Magnitude0
ClinVar
Risk rs755338872(-;-)
Alt rs755338872(-;-)
Reference Rs755338872(G;G)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 3 with or without polydactyly
Variation info
Gene DYNC2H1
CLNDBN Short-rib thoracic dysplasia 3 with or without polydactyly
Reversed 0
HGVS NC_000011.9:g.103025230delG
CLNSRC
CLNACC RCV000176375.1,