rs267607555, LMNA

N. diseases: 6
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 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.710 1.000 1 2020 2020
Hereditary Motor and Sensory-Neuropathy Type II
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
144 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.700 1.000 9 2004 2017
Hyperglycemia
CUI: C0020456
Disease: Hyperglycemia
108 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.700 1.000 5 1990 2013
Monogenic diabetes
CUI: C3888631
Disease: Monogenic diabetes
19 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.700 1.000 5 1990 2013
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.010 1.000 1 2013 2013
Focal glomerulosclerosis
CUI: C0017668
Disease: Focal glomerulosclerosis
50 0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06 0.010 1.000 1 2013 2013