Disease: Candidiasis, Familial, 2 ×
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: rs149712114
rs149712114 		1.000 0.080 9 136367788 missense variant C/G;T snv 2.1E-05; 6.4E-05
CUI: C1859353
Disease: Candidiasis, Familial, 2
Candidiasis, Familial, 2 		Infections; Skin and Connective Tissue Diseases 0.800 1.000 3 2009 2013
dbSNP: rs398122362
rs398122362 		1.000 0.080 9 136371432 missense variant C/A;T snv 7.0E-06
CUI: C1859353
Disease: Candidiasis, Familial, 2
Candidiasis, Familial, 2 		Infections; Skin and Connective Tissue Diseases 0.800 1.000 3 2009 2013
dbSNP: rs398122364
rs398122364 		1.000 0.080 9 136371345 missense variant G/A snv
CUI: C1859353
Disease: Candidiasis, Familial, 2
Candidiasis, Familial, 2 		Infections; Skin and Connective Tissue Diseases 0.800 1.000 3 2009 2013
dbSNP: rs121918338
rs121918338 		0.807 0.160 9 136370362 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C1859353
Disease: Candidiasis, Familial, 2
Candidiasis, Familial, 2 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1564367364
rs1564367364 		1.000 0.080 9 136367237 frameshift variant -/C delins
CUI: C1859353
Disease: Candidiasis, Familial, 2
Candidiasis, Familial, 2 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs398122363
rs398122363 		0.827 0.120 9 136370380 stop gained G/A snv 8.2E-06 7.0E-06
CUI: C1859353
Disease: Candidiasis, Familial, 2
Candidiasis, Familial, 2 		Infections; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs746470735
rs746470735 		1.000 0.080 9 136366803 frameshift variant TCTG/- delins 4.0E-06 7.0E-06
CUI: C1859353
Disease: Candidiasis, Familial, 2
Candidiasis, Familial, 2 		Infections; Skin and Connective Tissue Diseases 0.700 0