rs386833507, SLC26A2

N. diseases: 2
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.
Osteochondrodysplasias
CUI: C0029422
Disease: Osteochondrodysplasias
26 1.000 0.120 5 149977707 stop gained G/T snv 0.700 1.000 1 2001 2001
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 1.000 0.120 5 149977707 stop gained G/T snv 0.700 0