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

rs137853030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853030(C;T)
Make rs137853030(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position103125197
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs137853030
ebirs137853030
HLIrs137853030
Exacrs137853030
Varsomers137853030
Maprs137853030
PheGenIrs137853030
hapmaprs137853030
1000 genomesrs137853030
hgdprs137853030
ensemblrs137853030
gopubmedrs137853030
geneviewrs137853030
scholarrs137853030
googlers137853030
pharmgkbrs137853030
gwascentralrs137853030
openSNPrs137853030
23andMers137853030
23andMe allrs137853030
SNP Nexus

SNPshotrs137853030
SNPdbers137853030
MSV3drs137853030
GWAS Ctlgrs137853030
Max Magnitude0
OMIM603297
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137853030(T;T)
Alt rs137853030(T;T)
Reference rs137853030(C;C)
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.102995926C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006879.3,