rs386833498, SLC26A2

N. diseases: 5
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 0.851 0.120 5 149981316 frameshift variant A/- delins 0.700 1.000 2 1996 1996
Achondrogenesis, type IB (disorder)
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
34 0.851 0.120 5 149981316 frameshift variant A/- delins 0.700 0
Atelosteogenesis type 2
CUI: C1850554
Disease: Atelosteogenesis type 2
34 0.851 0.120 5 149981316 frameshift variant A/- delins 0.700 0
Diastrophic dysplasia
CUI: C0220726
Disease: Diastrophic dysplasia
63 0.851 0.120 5 149981316 frameshift variant A/- delins 0.700 0
EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
CUI: C1847593
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 4
57 0.851 0.120 5 149981316 frameshift variant A/- delins 0.700 0