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: rs2275426
rs2275426 		1 46021880 intron variant G/A snv 0.44
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 2 2015 2019
dbSNP: rs12077974
rs12077974 		1.000 0.080 1 45918469 intron variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3795318
rs3795318 		1 46029352 non coding transcript exon variant G/A;C snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7520050
rs7520050 		1 45966433 intron variant A/C;G snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs7520050
rs7520050 		1 45966433 intron variant A/C;G snv
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs77213763
rs77213763 		1 45975156 intron variant A/C snv 1.0E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs796415138
rs796415138 		1 45860202 intron variant CACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACACA delins 0.42
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs796415138
rs796415138 		1 45860202 intron variant CACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACACA delins 0.42
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs796415138
rs796415138 		1 45860202 intron variant CACACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACACA delins 0.42
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs9429088
rs9429088 		1 46031828 intron variant T/A snv 0.46
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs12124649
rs12124649 		0.925 0.080 1 46033535 intron variant A/G;T snv
CUI: C0154084
Disease: Stage 0 Breast Carcinoma
Stage 0 Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12124649
rs12124649 		0.925 0.080 1 46033535 intron variant A/G;T snv
CUI: C4520821
Disease: Stage 0 Breast Cancer AJCC v6 and v7
Stage 0 Breast Cancer AJCC v6 and v7 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018