rs555811074, WDR34

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.
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
116 0.925 0.120 9 128636919 missense variant G/A snv 4.1E-06 7.0E-06 0.700 0
Short Rib-Polydactyly Syndrome
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
13 0.925 0.120 9 128636919 missense variant G/A snv 4.1E-06 7.0E-06 0.010 1.000 1 2017 2017