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: rs12472274
rs12472274 		2 238186781 non coding transcript exon variant G/A;T snv
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement 		0.800 1.000 1 2012 2012
dbSNP: rs11677736
rs11677736 		1.000 0.040 2 238178557 intron variant T/A snv 0.17
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13020362
rs13020362 		1.000 0.040 2 238204462 upstream gene variant A/G snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1374387
rs1374387 		1.000 0.040 2 238177046 intron variant T/G snv 0.48
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2278737
rs2278737 		1.000 0.040 2 238170901 synonymous variant A/G snv 0.15 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2880131
rs2880131 		1.000 0.040 2 238180510 intron variant A/C snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs35113840
rs35113840 		2 238193015 intron variant -/A;AA delins
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs35113840
rs35113840 		2 238193015 intron variant -/A;AA delins
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs35676364
rs35676364 		2 238184733 intron variant TTTTT/-;TTTT;TTTTTT;TTTTTTT;TTTTTTTT delins
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs35676364
rs35676364 		2 238184733 intron variant TTTTT/-;TTTT;TTTTTT;TTTTTTT;TTTTTTTT delins
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs3795904
rs3795904 		1.000 0.040 2 238193949 intron variant C/T snv 0.28
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4663854
rs4663854 		1.000 0.040 2 238174526 intron variant T/C snv 0.46
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4663855
rs4663855 		1.000 0.040 2 238174660 intron variant G/C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6431588
rs6431588 		0.925 0.040 2 238185147 intron variant T/C;G snv 0.86 0.85
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6722284
rs6722284 		1.000 0.040 2 238174436 intron variant C/A snv 9.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6749351
rs6749351 		1.000 0.040 2 238173986 intron variant G/C snv 5.3E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7598219
rs7598219 		1.000 0.040 2 238174262 intron variant G/A snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6431588
rs6431588 		0.925 0.040 2 238185147 intron variant T/C;G snv 0.86 0.85
CUI: C0025202
Disease: melanoma
melanoma 		Neoplasms 0.010 1.000 1 2014 2014