LMNA, lamin A/C, 4000

N. diseases: 824; N. variants: 285
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11575937
rs11575937
0.653 0.480 1 156136985 missense variant G/A;T snv
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 12 1991 2013
dbSNP: rs267607555
rs267607555
0.807 0.280 1 156136009 missense variant C/T snv 7.0E-06
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 5 1990 2013