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rs397514635

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514635(A;A)
Make rs397514635(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position103199373
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs397514635
ebirs397514635
HLIrs397514635
Exacrs397514635
Varsomers397514635
Maprs397514635
PheGenIrs397514635
hapmaprs397514635
1000 genomesrs397514635
hgdprs397514635
ensemblrs397514635
gopubmedrs397514635
geneviewrs397514635
scholarrs397514635
googlers397514635
pharmgkbrs397514635
gwascentralrs397514635
openSNPrs397514635
23andMers397514635
23andMe allrs397514635
SNP Nexus

SNPshotrs397514635
SNPdbers397514635
MSV3drs397514635
GWAS Ctlgrs397514635
Max Magnitude0
ClinVar
Risk rs397514635(A;A)
Alt rs397514635(A;A)
Reference rs397514635(G;G)
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.103070102G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000033158.4,