rs104893920, 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 149980866 missense variant A/G snv 0.800 1.000 1 1996 1996
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.882 0.120 5 149980866 missense variant A/G snv 0.710 1.000 1 1997 1997
De La Chapelle Dysplasia
CUI: C1850555
Disease: De La Chapelle Dysplasia
3 0.882 0.120 5 149980866 missense variant A/G snv 0.010 1.000 1 1997 1997