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: rs1057519847
rs1057519847
EGFR
0.570 0.560 7 55191821 missense variant CT/AG mnv
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2018 2018
dbSNP: rs1057519848
rs1057519848
EGFR
0.570 0.560 7 55191822 missense variant TG/GT mnv
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2018 2018
dbSNP: rs1128503
rs1128503
ABCB1
0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2017 2017
dbSNP: rs11942466
rs11942466
LOC107986229
4 74556361 intron variant C/A snv 0.27
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2018 2018
dbSNP: rs121434568
rs121434568
EGFR
0.568 0.560 7 55191822 missense variant T/A;G snv
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2018 2018
dbSNP: rs1893592
rs1893592
UBASH3A
0.742 0.280 21 42434957 missense variant A/C;G snv 0.27; 8.0E-06
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2015 2015
dbSNP: rs2069762
rs2069762
IL2
0.672 0.560 4 122456825 upstream gene variant A/C snv 0.24
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2019 2019
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 < 0.001 1 2017 2017
dbSNP: rs750713244
rs750713244
EGFR
0.925 0.200 7 55157753 missense variant A/G snv 8.0E-06
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2013 2013
dbSNP: rs8176345
rs8176345
CYP27B1
12 57764775 synonymous variant C/T snv 2.3E-02 2.1E-02
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2016 2016
dbSNP: rs9996584
rs9996584
LOC107986229
4 74556244 intron variant A/G snv 0.59
CUI: C0015230
Disease: Exanthema
Exanthema 		0.010 1.000 1 2018 2018