rs28937580, NOG

N. diseases: 4
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.
SYMPHALANGISM, PROXIMAL, 1A
CUI: C3714899
Disease: SYMPHALANGISM, PROXIMAL, 1A
12 0.851 0.080 17 56594326 missense variant C/G;T snv 0.810 1.000 5 1999 2008
BRACHYDACTYLY, TYPE B2 (disorder)
CUI: C1969652
Disease: BRACHYDACTYLY, TYPE B2 (disorder)
2 0.851 0.080 17 56594326 missense variant C/G;T snv 0.800 1.000 1 2007 2007
STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
CUI: C1866656
Disease: STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (disorder)
2 0.851 0.080 17 56594326 missense variant C/G;T snv 0.710 1.000 1 2008 2008
BRACHYDACTYLY, TYPE B1
CUI: C1862112
Disease: BRACHYDACTYLY, TYPE B1
8 0.851 0.080 17 56594326 missense variant C/G;T snv 0.010 1.000 1 2008 2008