Source: ALL

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: rs12679242
rs12679242
CYP11B2
8 142916672 intron variant C/T snv 0.38
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 1.000 1 2018 2018
dbSNP: rs6418
rs6418
CYP11B2 ; GML
8 142914947 intron variant A/C;G snv 0.42
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.700 1.000 1 2018 2018
dbSNP: rs4539
rs4539
CYP11B2 ; GML
0.925 0.080 8 142915123 missense variant T/C snv 0.42 0.38
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.050 0.800 5 2000 2010
dbSNP: rs1799998
rs1799998
CYP11B2
0.742 0.200 8 142918184 upstream gene variant A/G;T snv 0.38
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.040 0.750 4 2010 2019
dbSNP: rs10086846
rs10086846
CYP11B2 ; GML
8 142915715 intron variant C/A;T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2013 2013
dbSNP: rs3802230
rs3802230
CYP11B2 ; GML
1.000 0.040 8 142911448 3 prime UTR variant C/A snv 0.63
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2013 2013
dbSNP: rs4536
rs4536
CYP11B2 ; GML
8 142914345 synonymous variant C/T snv 0.90 0.94
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2011 2011
dbSNP: rs5310
rs5310
CYP11B2 ; GML
8 142914393 synonymous variant G/A snv 1.7E-03 5.9E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2003 2003
dbSNP: rs542092383
rs542092383
CYP11B2 ; GML
8 142915741 intron variant A/G snv 3.3E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2017 2017