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rs397514636

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514636(C;T)
Make rs397514636(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position103191565
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs397514636
ebirs397514636
HLIrs397514636
Exacrs397514636
Varsomers397514636
Maprs397514636
PheGenIrs397514636
hapmaprs397514636
1000 genomesrs397514636
hgdprs397514636
ensemblrs397514636
gopubmedrs397514636
geneviewrs397514636
scholarrs397514636
googlers397514636
pharmgkbrs397514636
gwascentralrs397514636
openSNPrs397514636
23andMers397514636
23andMe allrs397514636
SNP Nexus

SNPshotrs397514636
SNPdbers397514636
MSV3drs397514636
GWAS Ctlgrs397514636
Max Magnitude0
ClinVar
Risk rs397514636(T;T)
Alt rs397514636(T;T)
Reference rs397514636(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.103062294C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000033159.4,