Source: GWASCAT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 3 2015 2018
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 3 2015 2018
dbSNP: rs117753190
rs117753190
ABCA6
17 69140184 intron variant C/G snv 2.0E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 2 2019 2019
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs117753190
rs117753190
ABCA6
17 69140184 intron variant C/G snv 2.0E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2019 2019
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs77542162
rs77542162
ABCA6
1.000 0.040 17 69085137 missense variant A/G snv 9.3E-03 1.0E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs997781
rs997781
ABCA6
17 69121547 intron variant A/G;T snv
CUI: C0037369
Disease: Smoking
Smoking 		0.700 1.000 1 2015 2015
dbSNP: rs997781
rs997781
ABCA6
17 69121547 intron variant A/G;T snv
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.700 1.000 1 2015 2015