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rs137853028

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853028(C;C)
Make rs137853028(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position103155476
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs137853028
ebirs137853028
HLIrs137853028
Exacrs137853028
Varsomers137853028
Maprs137853028
PheGenIrs137853028
hapmaprs137853028
1000 genomesrs137853028
hgdprs137853028
ensemblrs137853028
gopubmedrs137853028
geneviewrs137853028
scholarrs137853028
googlers137853028
pharmgkbrs137853028
gwascentralrs137853028
openSNPrs137853028
23andMers137853028
23andMe allrs137853028
SNP Nexus

SNPshotrs137853028
SNPdbers137853028
MSV3drs137853028
GWAS Ctlgrs137853028
Max Magnitude0
OMIM603297
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137853028(C;C)
Alt rs137853028(C;C)
Reference rs137853028(T;T)
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.103026205T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006877.3,