rs57830985, LMNA

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.
Familial Partial Lipodystrophy, Type 2
CUI: C1720860
Disease: Familial Partial Lipodystrophy, Type 2
23 0.925 0.080 1 156138534 missense variant G/A;T snv 8.2E-06 7.0E-06 0.800 1.000 11 2000 2014
Familial partial lipodystrophy
CUI: C0271694
Disease: Familial partial lipodystrophy
16 0.925 0.080 1 156138534 missense variant G/A;T snv 8.2E-06 7.0E-06 0.020 1.000 2 2000 2000