rs104893916, SLC26A2

N. diseases: 3
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 0.882 0.120 5 149981626 missense variant G/T snv 4.0E-06 2.1E-05 0.800 1.000 1 1996 1996
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
57 0.882 0.120 5 149981626 missense variant G/T snv 4.0E-06 2.1E-05 0.700 1.000 3 1996 2004
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.882 0.120 5 149981626 missense variant G/T snv 4.0E-06 2.1E-05 0.700 0