Disease: Down Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2187247
rs2187247
Entrez Id: 90625
Gene Symbol: ERVH48-1
ERVH48-1
CUI: C0013080
Disease:
Down Syndrome 		0.010 GeneticVariation BEFREE The expressed SNP (rs2187247) in exon 2 of the placentally expressed C21orf105 gene (chromosome 21 open reading frame 105) on chromosome 21 was tested in a trisomy 21 model system in which we obtained RNA selectively released from syncytiotrophoblasts of normal and trisomy 21 placentas during first trimester. 18223136 2008