LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Disease: Atypical Werner syndrome ×
Source: BEFREE ×
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: rs267607619
rs267607619 		0.882 0.160 1 156130666 missense variant G/C snv
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2015 2015
dbSNP: rs267607620
rs267607620 		0.925 0.120 1 156114929 missense variant C/G;T snv 6.0E-06
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs28928903
rs28928903 		0.925 0.240 1 156115087 missense variant G/A;C snv
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2009 2009
dbSNP: rs60864230
rs60864230 		0.790 0.280 1 156130658 missense variant G/A;C;T snv 4.0E-06
CUI: C4275075
Disease: Atypical Werner syndrome
Atypical Werner syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2005 2005