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: rs886039902
rs886039902
ANKRD11
0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		0.700 0
dbSNP: rs12979860
rs12979860
IFNL4
0.547 0.520 19 39248147 intron variant C/T snv 0.39
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		0.010 1.000 1 2013 2013
dbSNP: rs17580
rs17580
SERPINA1
0.776 0.160 14 94380925 missense variant T/A snv 2.3E-02 2.9E-02
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		0.010 1.000 1 2019 2019
dbSNP: rs2071746
rs2071746
HMOX1
0.708 0.320 22 35380679 intron variant A/T snv 0.49
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		0.010 1.000 1 2018 2018
dbSNP: rs28929474
rs28929474
SERPINA1
0.708 0.320 14 94378610 missense variant C/G;T snv 2.8E-05; 1.1E-02
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		0.010 1.000 1 2019 2019