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rs864309723

From SNPedia

Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs864309723(A;G)
Make rs864309723(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position169100918
GeneMECOM
is asnp
is mentioned by
dbSNPrs864309723
ebirs864309723
HLIrs864309723
Exacrs864309723
Varsomers864309723
Maprs864309723
PheGenIrs864309723
hapmaprs864309723
1000 genomesrs864309723
hgdprs864309723
ensemblrs864309723
gopubmedrs864309723
geneviewrs864309723
scholarrs864309723
googlers864309723
pharmgkbrs864309723
gwascentralrs864309723
openSNPrs864309723
23andMers864309723
23andMe allrs864309723
SNP Nexus

SNPshotrs864309723
SNPdbers864309723
MSV3drs864309723
GWAS Ctlgrs864309723
Max Magnitude0
ClinVar
Risk rs864309723(G;G)
Alt rs864309723(G;G)
Reference rs864309723(A;A)
Significance Pathogenic
Disease Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Variation info
Gene MECOM
CLNDBN Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
Reversed 1
HGVS NC_000003.11:g.168818706T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000203303.1,