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.
McCune-Albright Syndrome
CUI: C0242292
Disease: McCune-Albright Syndrome
10 0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05 0.030 1.000 3 2001 2008
Cryptogenic sexual precocity
CUI: C0271527
Disease: Cryptogenic sexual precocity
2 0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05 0.010 1.000 1 2006 2006
Macrophage Activation Syndrome
CUI: C1096155
Disease: Macrophage Activation Syndrome
6 0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05 0.010 1.000 1 2008 2008
Meconium Aspiration Syndrome
CUI: C0025048
Disease: Meconium Aspiration Syndrome
1 0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05 0.010 1.000 1 2008 2008
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
20 0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05 0.010 1.000 1 2006 2006