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rs374356079

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs374356079(A;A)
Make rs374356079(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position43805247
GeneDYNC2LI1
is asnp
is mentioned by
dbSNPrs374356079
ebirs374356079
HLIrs374356079
Exacrs374356079
Varsomers374356079
Maprs374356079
PheGenIrs374356079
hapmaprs374356079
1000 genomesrs374356079
hgdprs374356079
ensemblrs374356079
gopubmedrs374356079
geneviewrs374356079
scholarrs374356079
googlers374356079
pharmgkbrs374356079
gwascentralrs374356079
openSNPrs374356079
23andMers374356079
23andMe allrs374356079
SNP Nexus

SNPshotrs374356079
SNPdbers374356079
MSV3drs374356079
GWAS Ctlgrs374356079
Max Magnitude0
ClinVar
Risk rs374356079(A;A)
Alt rs374356079(A;A)
Reference rs374356079(G;G)
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.44032386G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239722.1,