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rs137853035

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853035(A;G)
Make rs137853035(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position103177640
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs137853035
ebirs137853035
HLIrs137853035
Exacrs137853035
Varsomers137853035
Maprs137853035
PheGenIrs137853035
hapmaprs137853035
1000 genomesrs137853035
hgdprs137853035
ensemblrs137853035
gopubmedrs137853035
geneviewrs137853035
scholarrs137853035
googlers137853035
pharmgkbrs137853035
gwascentralrs137853035
openSNPrs137853035
23andMers137853035
23andMe allrs137853035
SNP Nexus

SNPshotrs137853035
SNPdbers137853035
MSV3drs137853035
GWAS Ctlgrs137853035
Max Magnitude0
OMIM603297
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137853035(G;G)
Alt rs137853035(G;G)
Reference rs137853035(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.103048369A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006886.4,