FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Disease: Restrictive cardiomyopathy ×
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: rs1382734231
rs1382734231 		1.000 0.040 7 128854578 missense variant C/A;T snv 7.0E-06
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1563005534
rs1563005534 		1.000 0.040 7 128857244 missense variant A/G snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1554401403
rs1554401403 		1.000 0.040 7 128854577 missense variant C/T snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1114167361
rs1114167361 		0.827 0.160 7 128845022 missense variant C/T snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1131692185
rs1131692185 		0.882 0.040 7 128845012 missense variant GC/CT mnv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018