Have questions? Visit https://www.reddit.com/r/SNPedia

rs137853031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853031(A;A)
Make rs137853031(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position103185032
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs137853031
ebirs137853031
HLIrs137853031
Exacrs137853031
Varsomers137853031
Maprs137853031
PheGenIrs137853031
hapmaprs137853031
1000 genomesrs137853031
hgdprs137853031
ensemblrs137853031
gopubmedrs137853031
geneviewrs137853031
scholarrs137853031
googlers137853031
pharmgkbrs137853031
gwascentralrs137853031
openSNPrs137853031
23andMers137853031
23andMe allrs137853031
SNP Nexus

SNPshotrs137853031
SNPdbers137853031
MSV3drs137853031
GWAS Ctlgrs137853031
Max Magnitude0
OMIM603297
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137853031(A;A)
Alt rs137853031(A;A)
Reference rs137853031(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.103055761G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000006880.3,