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rs879255656

From SNPedia

Orientationplus
Stabilizedplus
Make rs879255656(A;G)
Make rs879255656(G;G)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position43805249
GeneDYNC2LI1
is asnp
is mentioned by
dbSNPrs879255656
dbSNP (classic)rs879255656
ClinGenrs879255656
ebirs879255656
HLIrs879255656
Exacrs879255656
Gnomadrs879255656
Varsomers879255656
LitVarrs879255656
Maprs879255656
PheGenIrs879255656
Biobankrs879255656
1000 genomesrs879255656
hgdprs879255656
ensemblrs879255656
geneviewrs879255656
scholarrs879255656
googlers879255656
pharmgkbrs879255656
gwascentralrs879255656
openSNPrs879255656
23andMers879255656
SNPshotrs879255656
SNPdbers879255656
MSV3drs879255656
GWAS Ctlgrs879255656
Max Magnitude0
ClinVar
Risk rs879255656(G;G)
Alt rs879255656(G;G)
Reference Rs879255656(A;A)
Significance Pathogenic
Disease Short-rib thoracic dysplasia 15 with polydactyly
Variation info
Gene DYNC2LI1
CLNDBN Short-rib thoracic dysplasia 15 with polydactyly
Reversed 0
HGVS NC_000002.11:g.44032388A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000239617.1,