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rs137853026

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853026(A;G)
Make rs137853026(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position103304601
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs137853026
ebirs137853026
HLIrs137853026
Exacrs137853026
Varsomers137853026
Maprs137853026
PheGenIrs137853026
hapmaprs137853026
1000 genomesrs137853026
hgdprs137853026
ensemblrs137853026
gopubmedrs137853026
geneviewrs137853026
scholarrs137853026
googlers137853026
pharmgkbrs137853026
gwascentralrs137853026
openSNPrs137853026
23andMers137853026
23andMe allrs137853026
SNP Nexus

SNPshotrs137853026
SNPdbers137853026
MSV3drs137853026
GWAS Ctlgrs137853026
GMAF0.0004591
Max Magnitude0
OMIM603297
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853026(G;G)
Alt rs137853026(G;G)
Reference rs137853026(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.103175330A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006874.4,