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rs780539887

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs780539887(-;-)
Make rs780539887(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position103121038
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs780539887
dbSNP (classic)rs780539887
ClinGenrs780539887
ebirs780539887
HLIrs780539887
Exacrs780539887
Gnomadrs780539887
Varsomers780539887
LitVarrs780539887
Maprs780539887
PheGenIrs780539887
Biobankrs780539887
1000 genomesrs780539887
hgdprs780539887
ensemblrs780539887
geneviewrs780539887
scholarrs780539887
googlers780539887
pharmgkbrs780539887
gwascentralrs780539887
openSNPrs780539887
23andMers780539887
SNPshotrs780539887
SNPdbers780539887
MSV3drs780539887
GWAS Ctlgrs780539887
Max Magnitude0
ClinVar
Risk rs780539887(-;-)
Alt rs780539887(-;-)
Reference Rs780539887(T;T)
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.102991767delT
CLNSRC
CLNACC RCV000180552.1,