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rs201479015

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs201479015(A;A)
Make rs201479015(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position103321029
GeneDYNC2H1
is asnp
is mentioned by
dbSNPrs201479015
dbSNP (classic)rs201479015
ClinGenrs201479015
ebirs201479015
HLIrs201479015
Exacrs201479015
Gnomadrs201479015
Varsomers201479015
LitVarrs201479015
Maprs201479015
PheGenIrs201479015
Biobankrs201479015
1000 genomesrs201479015
hgdprs201479015
ensemblrs201479015
geneviewrs201479015
scholarrs201479015
googlers201479015
pharmgkbrs201479015
gwascentralrs201479015
openSNPrs201479015
23andMers201479015
SNPshotrs201479015
SNPdbers201479015
MSV3drs201479015
GWAS Ctlgrs201479015
Max Magnitude0
ClinVar
Risk rs201479015(A;A)
Alt rs201479015(A;A)
Reference Rs201479015(G;G)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 3 with or without polydactyly not specified
Variation info
Gene DYNC2H1
CLNDBN Short-rib thoracic dysplasia 3 with or without polydactyly not specified
Reversed 0
HGVS NC_000011.9:g.103191758G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023292.4, RCV000180413.1,