GSN, gelsolin, 2934

N. diseases: 262; N. variants: 26
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: C1622345
Disease: Meretoja syndrome
Meretoja syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases 0.800 1.000 2 1990 1992
dbSNP: rs10985207
rs10985207 		1.000 0.040 9 121321670 intron variant A/G snv 6.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs16910509
rs16910509 		1.000 0.040 9 121321193 intron variant C/T snv 9.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs16910520
rs16910520 		1.000 0.040 9 121325962 intron variant A/G snv 3.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2164298
rs2164298 		1.000 0.040 9 121330593 intron variant T/C snv 7.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs216784
rs216784 		1.000 0.040 9 121326895 intron variant C/T snv 0.81
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2289069
rs2289069 		1.000 0.040 9 121326453 intron variant A/G snv 5.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2900193
rs2900193 		1.000 0.040 9 121317523 non coding transcript exon variant T/C snv 6.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs306759
rs306759 		1.000 0.040 9 121314538 intron variant C/T snv 0.83
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs306761
rs306761 		1.000 0.040 9 121313266 non coding transcript exon variant G/A snv 0.40
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs306770
rs306770 		1.000 0.040 9 121328506 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs306772
rs306772 		1.000 0.040 9 121330077 intron variant C/T snv 0.25
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs76331566
rs76331566 		9 121246736 intron variant C/T snv 3.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
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: rs121909715
rs121909715 		0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.050 1.000 5 1991 2017
dbSNP: rs121909715
rs121909715 		0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases 0.040 1.000 4 1995 2011
dbSNP: rs759304648
rs759304648 		0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases 0.040 1.000 4 1995 2000
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: rs121909715
rs121909715 		0.790 0.160 9 121310819 missense variant G/A;T snv 4.0E-06
CUI: C0155127
Disease: Familial Amyloid Polyneuropathy, Type V
Familial Amyloid Polyneuropathy, Type V 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 1992 2018
dbSNP: rs376961112
rs376961112 		0.851 0.240 9 121302059 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C2751492
Disease: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2011 2011
dbSNP: rs759304648
rs759304648 		0.790 0.240 9 121312479 synonymous variant G/A snv 8.0E-05 3.5E-05
CUI: C0740340
Disease: Amyloidosis, Familial
Amyloidosis, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 1997 1999
dbSNP: rs920832709
rs920832709 		0.851 0.200 9 121321384 synonymous variant G/T snv
CUI: C1628319
Disease: Lattice corneal dystrophy Type II
Lattice corneal dystrophy Type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases 0.020 1.000 2 1995 2000
dbSNP: rs1078305
rs1078305 		1.000 0.040 9 121289122 intron variant A/G snv 0.70
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs10818524
rs10818524 		1.000 0.040 9 121267901 intron variant T/C snv 0.37
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2016 2016