rs104893921, 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.
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.925 0.120 5 149980954 missense variant A/C snv 7.0E-06 0.700 0
Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
CUI: C1857255
Disease: Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
1 0.925 0.120 5 149980954 missense variant A/C snv 7.0E-06 0.700 0