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: rs1467199
rs1467199 		1.000 0.120 2 191015776 intron variant C/G;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2280235
rs2280235 		1.000 0.080 2 190979104 splice region variant A/G snv 0.23
CUI: C0005612
Disease: Birth Weight
Birth Weight 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C0005741
Disease: Blepharitis
Blepharitis 		Eye Diseases 0.700 0
dbSNP: rs886043118
rs886043118 		0.925 0.040 2 191009916 frameshift variant T/- delins
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		Hemic and Lymphatic Diseases 0.700 1.000 2 2016 2018
dbSNP: rs7597768
rs7597768 		2 190977153 intron variant A/G snv 0.22
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis 		Respiratory Tract Diseases 0.700 0
dbSNP: rs387906759
rs387906759 		0.851 0.080 2 190995205 missense variant G/A snv
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous 		Infections; Skin and Connective Tissue Diseases 0.700 1.000 9 2011 2017
dbSNP: rs796065052
rs796065052 		0.925 0.080 2 190986924 missense variant C/T snv
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous 		Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C0006845
Disease: Candidiasis, Chronic Mucocutaneous
Candidiasis, Chronic Mucocutaneous 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs387906758
rs387906758 		0.851 0.080 2 190995185 missense variant G/A;C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 12 2011 2017
dbSNP: rs387906759
rs387906759 		0.851 0.080 2 190995205 missense variant G/A snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 10 2011 2016
dbSNP: rs587777630
rs587777630 		0.716 0.440 2 190986921 missense variant G/A snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 10 2011 2017
dbSNP: rs387906760
rs387906760 		0.790 0.200 2 190995184 missense variant C/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906761
rs387906761 		1.000 2 190995148 missense variant T/A snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906762
rs387906762 		0.925 0.080 2 190998246 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906763
rs387906763 		1.000 2 190999647 missense variant A/G snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906764
rs387906764 		1.000 2 190999673 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906765
rs387906765 		1.000 2 190995143 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906766
rs387906766 		1.000 2 190999659 missense variant A/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906767
rs387906767 		1.000 2 190999674 missense variant C/G snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs387906768
rs387906768 		1.000 2 190995193 missense variant T/G snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs587777628
rs587777628 		1.000 2 190999630 missense variant G/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs587777629
rs587777629 		1.000 2 190995151 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs863223398
rs863223398 		1.000 2 190995173 missense variant T/C snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.800 1.000 5 2011 2015
dbSNP: rs1085307649
rs1085307649 		0.882 2 190995129 missense variant G/T snv
CUI: C3279990
Disease: CANDIDIASIS, FAMILIAL, 7
CANDIDIASIS, FAMILIAL, 7 		0.700 1.000 1 2016 2016