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: rs2284550
rs2284550 		21 33245980 intron variant G/A snv 0.48
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2229207
rs2229207 		1.000 21 33241945 missense variant T/C snv 0.10 9.0E-02
CUI: C1864880
Disease: HEPATITIS B VIRUS, SUSCEPTIBILITY TO
HEPATITIS B VIRUS, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs775739391
rs775739391 		1.000 21 33246807 frameshift variant A/- del 7.0E-06
CUI: C4225252
Disease: IMMUNODEFICIENCY 45
IMMUNODEFICIENCY 45 		0.700 0
dbSNP: rs1442820036
rs1442820036 		1.000 0.080 21 33246788 missense variant G/A snv 4.0E-06
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.020 1.000 2 2009 2013
dbSNP: rs12233338
rs12233338 		1.000 0.080 21 33228611 upstream gene variant T/C snv 0.21
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2018 2018
dbSNP: rs999788
rs999788 		0.925 0.120 21 33265726 non coding transcript exon variant C/T snv 0.20
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs999788
rs999788 		0.925 0.120 21 33265726 non coding transcript exon variant C/T snv 0.20
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013