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rs794727944

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794727944(A;A)
Make rs794727944(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position103358360
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs794727944
ebirs794727944
HLIrs794727944
Exacrs794727944
Varsomers794727944
Maprs794727944
PheGenIrs794727944
hapmaprs794727944
1000 genomesrs794727944
hgdprs794727944
ensemblrs794727944
gopubmedrs794727944
geneviewrs794727944
scholarrs794727944
googlers794727944
pharmgkbrs794727944
gwascentralrs794727944
openSNPrs794727944
23andMers794727944
23andMe allrs794727944
SNP Nexus

SNPshotrs794727944
SNPdbers794727944
MSV3drs794727944
GWAS Ctlgrs794727944
Max Magnitude0
ClinVar
Risk rs794727944(A;A)
Alt rs794727944(A;A)
Reference rs794727944(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.103229088G>A
CLNSRC
CLNACC RCV000180422.1,