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: rs374042455
rs374042455 		0.925 3 43080674 missense variant G/A snv 1.6E-05
CUI: C4748320
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 		0.800 1.000 1 2015 2015
dbSNP: rs387907300
rs387907300 		1.000 3 43080959 missense variant C/T snv 1.2E-05
CUI: C3553813
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		0.800 0
dbSNP: rs729654
rs729654 		3 43106160 upstream gene variant C/G;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs11719573
rs11719573 		1.000 0.040 3 43083698 intron variant C/T snv 0.17
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12497427
rs12497427 		1.000 0.040 3 43083989 intron variant C/T snv 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12634345
rs12634345 		1.000 0.040 3 43097822 intron variant G/C snv 3.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1523126
rs1523126 		1.000 0.040 3 43090125 intron variant A/T snv 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17470330
rs17470330 		1.000 0.040 3 43098498 intron variant C/T snv 1.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1815070
rs1815070 		1.000 0.040 3 43092956 intron variant G/A;C snv 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs2867
rs2867 		1.000 0.040 3 43079343 3 prime UTR variant T/G snv 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs488069
rs488069 		0.925 0.080 3 43090952 intron variant C/T snv 0.79
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs488069
rs488069 		0.925 0.080 3 43090952 intron variant C/T snv 0.79
CUI: C0024530
Disease: Malaria
Malaria 		Infections 0.700 1.000 1 2009 2009
dbSNP: rs493412
rs493412 		1.000 0.040 3 43084913 intron variant C/T snv 0.59
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs503100
rs503100 		1.000 0.040 3 43087416 intron variant A/T snv 0.95
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7639740
rs7639740 		1.000 0.040 3 43091527 intron variant C/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1553618354
rs1553618354 		1.000 3 43080687 stop gained G/A snv
CUI: C3553813
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		0.700 0
dbSNP: rs1559414655
rs1559414655 		1.000 3 43080938 missense variant A/G snv
CUI: C4748320
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8 		0.700 0
dbSNP: rs374042455
rs374042455 		0.925 3 43080674 missense variant G/A snv 1.6E-05
CUI: C3553813
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		0.700 0
dbSNP: rs387907299
rs387907299 		1.000 3 43080099 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C3553813
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8 		0.700 0
dbSNP: rs387907300
rs387907300 		1.000 3 43080959 missense variant C/T snv 1.2E-05
CUI: C3278123
Disease: Severe hydrocephalus
Severe hydrocephalus 		Nervous System Diseases 0.700 0
dbSNP: rs387907300
rs387907300 		1.000 3 43080959 missense variant C/T snv 1.2E-05
CUI: C0410916
Disease: Neonatal Death
Neonatal Death 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications 0.700 0