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: rs1134634
rs1134634 		4 15601446 3 prime UTR variant G/C;T snv 0.58; 9.4E-06
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs200707391
rs200707391 		0.882 0.160 4 15557452 missense variant G/A;C;T snv 1.7E-04; 4.1E-06; 1.2E-05
CUI: C0302129
Disease: Achromatopsia 1
Achromatopsia 1 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200707391
rs200707391 		0.882 0.160 4 15557452 missense variant G/A;C;T snv 1.7E-04; 4.1E-06; 1.2E-05
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200707391
rs200707391 		0.882 0.160 4 15557452 missense variant G/A;C;T snv 1.7E-04; 4.1E-06; 1.2E-05
CUI: C0152200
Disease: Achromatopsia
Achromatopsia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1134634
rs1134634 		4 15601446 3 prime UTR variant G/C;T snv 0.58; 9.4E-06
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 2 2016 2018
dbSNP: rs1553845569
rs1553845569 		4 15599527 splice acceptor variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2009 2017
dbSNP: rs794729225
rs794729225 		1.000 0.160 4 15587843 inframe deletion GAA/- delins 4.0E-06 7.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 6 2009 2017
dbSNP: rs11728037
rs11728037 		1.000 0.040 4 15593275 intron variant T/C snv 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11932730
rs11932730 		1.000 0.040 4 15564135 non coding transcript exon variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13144428
rs13144428 		1.000 0.040 4 15555819 intron variant C/A snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1468735
rs1468735 		1.000 0.040 4 15562415 intron variant A/C snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs16892141
rs16892141 		1.000 0.040 4 15548155 intron variant G/A snv 5.7E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs16892143
rs16892143 		1.000 0.040 4 15550495 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs16892152
rs16892152 		1.000 0.040 4 15559630 intron variant A/G snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17476670
rs17476670 		1.000 0.040 4 15546688 intron variant C/T snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17476879
rs17476879 		1.000 0.040 4 15560390 intron variant C/T snv 8.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2041671
rs2041671 		1.000 0.040 4 15550575 intron variant T/C snv 0.27
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2041672
rs2041672 		1.000 0.040 4 15550672 intron variant A/G snv 0.13
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2041673
rs2041673 		1.000 0.040 4 15550800 non coding transcript exon variant C/T snv 0.13 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs34831330
rs34831330 		1.000 0.040 4 15563585 intron variant T/C snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs41417147
rs41417147 		1.000 0.040 4 15556563 intron variant C/T snv 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6449146
rs6449146 		1.000 0.040 4 15574641 intron variant A/G snv 0.55
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6449150
rs6449150 		1.000 0.040 4 15587691 intron variant C/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs9996452
rs9996452 		1.000 0.040 4 15559008 intron variant C/G snv 0.41
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7684446
rs7684446 		4 15591241 intron variant C/G;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016