KLRC4-KLRK1, KLRC4-KLRK1 readthrough, 100528032

N. diseases: 246; 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: rs2617170
rs2617170 		1.000 0.200 12 10408358 missense variant T/C snv 0.63 0.61
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.820 1.000 3 2013 2017
dbSNP: rs2255336
rs2255336 		0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2010 2012
dbSNP: rs11053781
rs11053781 		1.000 0.080 12 10384670 intron variant C/G;T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2255336
rs2255336 		0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs2255336
rs2255336 		0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74
CUI: C0158945
Disease: Congenital cytomegalovirus infection
Congenital cytomegalovirus infection 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs2255336
rs2255336 		0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs2255336
rs2255336 		0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs2617160
rs2617160 		1.000 0.080 12 10392998 intron variant A/C;T snv
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2010 2010
dbSNP: rs2617167
rs2617167 		1.000 0.080 12 10406632 intron variant G/A snv 0.17
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2008 2008