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rs137853034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853034(G;T)
Make rs137853034(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position103189761
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs137853034
ebirs137853034
HLIrs137853034
Exacrs137853034
Varsomers137853034
Maprs137853034
PheGenIrs137853034
hapmaprs137853034
1000 genomesrs137853034
hgdprs137853034
ensemblrs137853034
gopubmedrs137853034
geneviewrs137853034
scholarrs137853034
googlers137853034
pharmgkbrs137853034
gwascentralrs137853034
openSNPrs137853034
23andMers137853034
23andMe allrs137853034
SNP Nexus

SNPshotrs137853034
SNPdbers137853034
MSV3drs137853034
GWAS Ctlgrs137853034
Max Magnitude0
OMIM603297
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137853034(T;T)
Alt rs137853034(T;T)
Reference rs137853034(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.103060490G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006885.3,