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: rs113940700
rs113940700
7 98949095 intron variant C/T snv 1.3E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs139472942
rs139472942
7 98928934 intron variant C/T snv 1.4E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2016 2016
dbSNP: rs55702649
rs55702649
7 98897785 synonymous variant G/C snv 3.0E-02 2.9E-02
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs62472014
rs62472014
7 98919494 intron variant C/T snv 2.3E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs1294404368
rs1294404368
1.000 0.080 7 98981947 missense variant C/T snv 4.4E-06 1.4E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs373632999
rs373632999
1.000 0.080 7 98949733 missense variant G/A snv 1.2E-05 4.2E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs528967912
rs528967912
1.000 0.080 7 98964724 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs753661271
rs753661271
1.000 0.080 7 98976613 missense variant C/T snv 4.0E-06
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.700 0
dbSNP: rs782203759
rs782203759
1.000 0.080 7 98950120 missense variant G/A snv 2.4E-05 2.8E-05
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs200157211
rs200157211
1.000 7 98897744 missense variant C/A;T snv 3.2E-05
CUI: C0848765
Disease: Hearing disability
Hearing disability
0.010 1.000 1 2019 2019