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rs864309724

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864309724(C;T)
Make rs864309724(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position169100922
GeneMECOM
is asnp
is mentioned by
dbSNPrs864309724
ebirs864309724
HLIrs864309724
Exacrs864309724
Varsomers864309724
Maprs864309724
PheGenIrs864309724
hapmaprs864309724
1000 genomesrs864309724
hgdprs864309724
ensemblrs864309724
gopubmedrs864309724
geneviewrs864309724
scholarrs864309724
googlers864309724
pharmgkbrs864309724
gwascentralrs864309724
openSNPrs864309724
23andMers864309724
23andMe allrs864309724
SNP Nexus

SNPshotrs864309724
SNPdbers864309724
MSV3drs864309724
GWAS Ctlgrs864309724
Max Magnitude0
ClinVar
Risk rs864309724(T;T)
Alt rs864309724(T;T)
Reference rs864309724(C;C)
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.168818710G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000203298.2,