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rs397514637

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514637(C;T)
Make rs397514637(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position103117852
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs397514637
ebirs397514637
HLIrs397514637
Exacrs397514637
Varsomers397514637
Maprs397514637
PheGenIrs397514637
hapmaprs397514637
1000 genomesrs397514637
hgdprs397514637
ensemblrs397514637
gopubmedrs397514637
geneviewrs397514637
scholarrs397514637
googlers397514637
pharmgkbrs397514637
gwascentralrs397514637
openSNPrs397514637
23andMers397514637
23andMe allrs397514637
SNP Nexus

SNPshotrs397514637
SNPdbers397514637
MSV3drs397514637
GWAS Ctlgrs397514637
Max Magnitude0
ClinVar
Risk rs397514637(T;T)
Alt rs397514637(T;T)
Reference rs397514637(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.102988581C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033160.5,