Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2255336
rs2255336
KLRK1 ; KLRC4-KLRK1 ; LOC101928100
0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.020 1.000 2 2010 2012
dbSNP: rs11053781
rs11053781
KLRK1 ; KLRC4-KLRK1 ; LOC101928100
1.000 0.080 12 10384670 intron variant C/G;T snv
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 1.000 1 2008 2008
dbSNP: rs2255336
rs2255336
KLRK1 ; KLRC4-KLRK1 ; LOC101928100
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 		0.010 1.000 1 2012 2012
dbSNP: rs2255336
rs2255336
KLRK1 ; KLRC4-KLRK1 ; LOC101928100
0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs2255336
rs2255336
KLRK1 ; KLRC4-KLRK1 ; LOC101928100
0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2012 2012
dbSNP: rs2255336
rs2255336
KLRK1 ; KLRC4-KLRK1 ; LOC101928100
0.827 0.200 12 10379727 missense variant T/C snv 0.81 0.74
CUI: C0158945
Disease: Congenital cytomegalovirus infection
Congenital cytomegalovirus infection 		0.010 1.000 1 2015 2015
dbSNP: rs2617160
rs2617160
KLRC4-KLRK1 ; LOC101928100
1.000 0.080 12 10392998 intron variant A/C;T snv
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		0.010 1.000 1 2010 2010