rs1057517513, SLC26A2

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
34 0.851 0.120 5 149981586 frameshift variant AC/- delins 0.700 1.000 1 2015 2015
Atelosteogenesis type 2
CUI: C1850554
Disease: Atelosteogenesis type 2
34 0.851 0.120 5 149981586 frameshift variant AC/- delins 0.700 1.000 1 2015 2015
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.851 0.120 5 149981586 frameshift variant AC/- delins 0.700 1.000 1 2015 2015
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
57 0.851 0.120 5 149981586 frameshift variant AC/- delins 0.700 1.000 1 2015 2015