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rs137853025

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853025(A;T)
Make rs137853025(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position103177652
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs137853025
ebirs137853025
HLIrs137853025
Exacrs137853025
Varsomers137853025
Maprs137853025
PheGenIrs137853025
hapmaprs137853025
1000 genomesrs137853025
hgdprs137853025
ensemblrs137853025
gopubmedrs137853025
geneviewrs137853025
scholarrs137853025
googlers137853025
pharmgkbrs137853025
gwascentralrs137853025
openSNPrs137853025
23andMers137853025
23andMe allrs137853025
SNP Nexus

SNPshotrs137853025
SNPdbers137853025
MSV3drs137853025
GWAS Ctlgrs137853025
Max Magnitude0
OMIM603297
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137853025(T;T)
Alt rs137853025(T;T)
Reference Rs137853025(A;A)
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.103048381A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006873.3,