GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
Disease: Amyloidosis ×
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: rs121909715
rs121909715 		0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.060 1.000 6 1991 2018
dbSNP: rs759304648
rs759304648 		0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.030 1.000 3 2002 2007
dbSNP: rs920832709
rs920832709 		0.851 0.200 9 121321384 synonymous variant G/T snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.030 1.000 3 2002 2007
dbSNP: rs1309900188
rs1309900188 		1.000 0.040 9 121312342 missense variant A/G;T snv 4.0E-06; 4.0E-06
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs376961112
rs376961112 		0.851 0.240 9 121302059 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs535229743
rs535229743 		1.000 0.040 9 121327419 missense variant G/A;C snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018