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rs886037860

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs886037860(C;T)
Make rs886037860(T;T)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position43800845
GeneDYNC2LI1
is asnp
is mentioned by
dbSNPrs886037860
dbSNP (classic)rs886037860
ClinGenrs886037860
ebirs886037860
HLIrs886037860
Exacrs886037860
Gnomadrs886037860
Varsomers886037860
LitVarrs886037860
Maprs886037860
PheGenIrs886037860
Biobankrs886037860
1000 genomesrs886037860
hgdprs886037860
ensemblrs886037860
geneviewrs886037860
scholarrs886037860
googlers886037860
pharmgkbrs886037860
gwascentralrs886037860
openSNPrs886037860
23andMers886037860
SNPshotrs886037860
SNPdbers886037860
MSV3drs886037860
GWAS Ctlgrs886037860
Max Magnitude0
ClinVar
Risk rs886037860(T;T)
Alt rs886037860(T;T)
Reference Rs886037860(C;C)
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.44027984C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000239689.1,