DLC1, DLC1 Rho GTPase activating protein, 10395

N. diseases: 144; N. variants: 21
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: rs1160554
rs1160554 		8 13544307 intron variant C/A;T snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs117489831
rs117489831 		8 13493656 intron variant A/G snv 2.0E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs118111862
rs118111862 		8 13395479 intron variant T/C snv 5.4E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs118111862
rs118111862 		8 13395479 intron variant T/C snv 5.4E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs12541254
rs12541254 		8 13121891 intron variant G/A snv 0.37
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs12548673
rs12548673 		8 13547260 intron variant A/C snv 0.29
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs17793145
rs17793145 		1.000 0.040 8 13252136 intron variant C/T snv 0.16
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2011 2011
dbSNP: rs28539528
rs28539528 		8 13405552 intron variant G/A;C snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs59738387
rs59738387 		8 13342703 non coding transcript exon variant G/A snv 0.21
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6993558
rs6993558 		8 13556842 intron variant T/G snv 0.37
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2017 2017
dbSNP: rs76364830
rs76364830 		8 13514611 5 prime UTR variant G/A snv 4.8E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs77236434
rs77236434 		0.925 0.120 8 13261659 intron variant C/T snv 6.4E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.700 1.000 1 2017 2017
dbSNP: rs77236434
rs77236434 		0.925 0.120 8 13261659 intron variant C/T snv 6.4E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs121908500
rs121908500 		1.000 0.080 8 13099462 missense variant T/C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs1303000329
rs1303000329 		0.851 0.080 8 13110812 missense variant G/A;T snv 4.0E-06
CUI: C0086664
Disease: Myelocele
Myelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1303000329
rs1303000329 		0.851 0.080 8 13110812 missense variant G/A;T snv 4.0E-06
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1303000329
rs1303000329 		0.851 0.080 8 13110812 missense variant G/A;T snv 4.0E-06
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1303000329
rs1303000329 		0.851 0.080 8 13110812 missense variant G/A;T snv 4.0E-06
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1563593163
rs1563593163 		0.925 0.080 8 13099960 stop gained G/A snv
CUI: C3891448
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1563593163
rs1563593163 		0.925 0.080 8 13099960 stop gained G/A snv
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs11203495
rs11203495 		8 13499310 missense variant T/G snv 0.85; 4.0E-06 0.85
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1330010954
rs1330010954 		0.882 0.080 8 13094897 missense variant C/T snv 4.0E-06
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1330010954
rs1330010954 		0.882 0.080 8 13094897 missense variant C/T snv 4.0E-06
CUI: C0279000
Disease: Liver and Intrahepatic Biliary Tract Carcinoma
Liver and Intrahepatic Biliary Tract Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1330010954
rs1330010954 		0.882 0.080 8 13094897 missense variant C/T snv 4.0E-06
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1330010954
rs1330010954 		0.882 0.080 8 13094897 missense variant C/T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2005 2005