PXN, paxillin, 5829

N. diseases: 116; N. variants: 5
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: rs12581983
rs12581983 		12 120233163 intron variant C/G snv 0.17
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs78768932
rs78768932 		0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2008 2011
dbSNP: rs78768932
rs78768932 		0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2008 2011
dbSNP: rs78768932
rs78768932 		0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2008 2011
dbSNP: rs1360583020
rs1360583020 		1.000 0.080 12 120215202 missense variant G/C snv 4.3E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs1360583020
rs1360583020 		1.000 0.080 12 120215202 missense variant G/C snv 4.3E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2003 2003
dbSNP: rs1428779969
rs1428779969 		0.882 0.120 12 120223776 missense variant G/A snv 7.0E-06
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1428779969
rs1428779969 		0.882 0.120 12 120223776 missense variant G/A snv 7.0E-06
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1428779969
rs1428779969 		0.882 0.120 12 120223776 missense variant G/A snv 7.0E-06
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs778384980
rs778384980 		1.000 0.040 12 120212445 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs78768932
rs78768932 		0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs78768932
rs78768932 		0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs78768932
rs78768932 		0.882 0.080 12 120222977 missense variant C/G;T snv 5.4E-03 5.4E-03
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2008 2008