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: rs1239725461
rs1239725461 		0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06
CUI: C0392557
Disease: Nuclear cataract
Nuclear cataract 		Eye Diseases 0.700 0
dbSNP: rs1239725461
rs1239725461 		0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0
dbSNP: rs1239725461
rs1239725461 		0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1239725461
rs1239725461 		0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs1305542291
rs1305542291 		0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1305542291
rs1305542291 		0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.800 0
dbSNP: rs1305542291
rs1305542291 		0.882 0.160 15 76381427 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs1395475624
rs1395475624 		0.882 0.160 15 76753813 inframe deletion CTT/- delins
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs1395475624
rs1395475624 		0.882 0.160 15 76753813 inframe deletion CTT/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1395475624
rs1395475624 		0.882 0.160 15 76753813 inframe deletion CTT/- delins
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0
dbSNP: rs1555447569
rs1555447569 		0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0
dbSNP: rs1555558169
rs1555558169 		0.925 0.080 15 76728739 splice acceptor variant T/C snv
CUI: C4748658
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA 		0.700 0
dbSNP: rs10851889
rs10851889 		1.000 0.040 15 76730995 intron variant C/T snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11072617
rs11072617 		1.000 0.040 15 76704160 intron variant T/A snv 9.4E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11072625
rs11072625 		1.000 0.040 15 76792643 intron variant G/A snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1116535
rs1116535 		1.000 0.040 15 76717173 intron variant G/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11632765
rs11632765 		1.000 0.040 15 76681920 intron variant A/T snv 0.34
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11633869
rs11633869 		1.000 0.040 15 76840981 intron variant A/C;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12440511
rs12440511 		1.000 0.040 15 76700794 intron variant A/G snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12904417
rs12904417 		1.000 0.040 15 76671811 intron variant G/A snv 0.31
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12912475
rs12912475 		1.000 0.040 15 76755574 intron variant T/C snv 3.2E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs140802894
rs140802894 		15 76607515 intron variant G/T snv 3.2E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs140802894
rs140802894 		15 76607515 intron variant G/T snv 3.2E-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: rs1555447569
rs1555447569 		0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 1.000 1 2017 2017
dbSNP: rs1555447569
rs1555447569 		0.851 0.160 15 76471314 frameshift variant ATTG/- delins
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017