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rs769975073

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs769975073(A;A)
Make rs769975073(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position43794508
GeneDYNC2LI1
is asnp
is mentioned by
dbSNPrs769975073
ebirs769975073
HLIrs769975073
Exacrs769975073
Varsomers769975073
Maprs769975073
PheGenIrs769975073
hapmaprs769975073
1000 genomesrs769975073
hgdprs769975073
ensemblrs769975073
gopubmedrs769975073
geneviewrs769975073
scholarrs769975073
googlers769975073
pharmgkbrs769975073
gwascentralrs769975073
openSNPrs769975073
23andMers769975073
23andMe allrs769975073
SNP Nexus

SNPshotrs769975073
SNPdbers769975073
MSV3drs769975073
GWAS Ctlgrs769975073
Max Magnitude0
ClinVar
Risk rs769975073(A;A)
Alt rs769975073(A;A)
Reference rs769975073(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.44021647G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239657.1,