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rs137853032

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853032(C;T)
Make rs137853032(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position103209933
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs137853032
ebirs137853032
HLIrs137853032
Exacrs137853032
Varsomers137853032
Maprs137853032
PheGenIrs137853032
hapmaprs137853032
1000 genomesrs137853032
hgdprs137853032
ensemblrs137853032
gopubmedrs137853032
geneviewrs137853032
scholarrs137853032
googlers137853032
pharmgkbrs137853032
gwascentralrs137853032
openSNPrs137853032
23andMers137853032
23andMe allrs137853032
SNP Nexus

SNPshotrs137853032
SNPdbers137853032
MSV3drs137853032
GWAS Ctlgrs137853032
Max Magnitude0
OMIM603297
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853032(T;T)
Alt rs137853032(T;T)
Reference rs137853032(C;C)
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.103080662C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000006881.3,