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

rs137853029

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853029(G;T)
Make rs137853029(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position103245374
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs137853029
ebirs137853029
HLIrs137853029
Exacrs137853029
Varsomers137853029
Maprs137853029
PheGenIrs137853029
hapmaprs137853029
1000 genomesrs137853029
hgdprs137853029
ensemblrs137853029
gopubmedrs137853029
geneviewrs137853029
scholarrs137853029
googlers137853029
pharmgkbrs137853029
gwascentralrs137853029
openSNPrs137853029
23andMers137853029
23andMe allrs137853029
SNP Nexus

SNPshotrs137853029
SNPdbers137853029
MSV3drs137853029
GWAS Ctlgrs137853029
Max Magnitude0
OMIM603297
Desc
Variant0006
Relatedalso
ClinVar
Risk rs137853029(T;T)
Alt rs137853029(T;T)
Reference rs137853029(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.103116103G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006878.4,