Source: ALL

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: rs1010930015
rs1010930015
1.000 0.040 12 64460250 missense variant A/C snv 4.2E-06
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
0.800 0
dbSNP: rs1014317450
rs1014317450
1.000 17 78997112 missense variant T/A snv 1.2E-05
CUI: C4540251
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7
EPIPHYSEAL DYSPLASIA, MULTIPLE, 7
0.800 0
dbSNP: rs1021330566
rs1021330566
1.000 16 23544679 missense variant C/T snv 7.0E-06
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
0.800 0
dbSNP: rs1028534806
rs1028534806
1.000 22 17592721 missense variant G/A snv
CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
0.800 0
dbSNP: rs1042640142
rs1042640142
1.000 6 24357700 missense variant C/G;T snv
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL
0.800 0
dbSNP: rs104893826
rs104893826
VHL
0.882 0.200 3 10142038 missense variant G/A;C snv
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
0.800 0
dbSNP: rs104894025
rs104894025
1.000 0.080 7 33021317 missense variant T/A snv 1.2E-05 2.1E-05
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
0.800 0
dbSNP: rs104894028
rs104894028
1.000 0.080 7 33017461 missense variant T/C snv 1.4E-05
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
0.800 0
dbSNP: rs104894029
rs104894029
0.925 0.080 7 33015741 missense variant C/G snv
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
0.800 0
dbSNP: rs104895079
rs104895079
1.000 0.040 16 3254567 missense variant C/G snv 4.4E-05 3.5E-05
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever
0.800 0
dbSNP: rs104895472
rs104895472
1.000 0.080 16 50711398 missense variant A/T snv
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800 0
dbSNP: rs104895473
rs104895473
0.925 0.120 16 50711449 missense variant T/C snv
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
0.800 0
dbSNP: rs104895502
rs104895502
1.000 19 54938095 missense variant C/A;G;T snv 4.8E-05; 8.0E-06
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1
0.800 0
dbSNP: rs104895503
rs104895503
1.000 19 54930571 missense variant T/C snv 1.4E-04 4.7E-04
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1
0.800 0
dbSNP: rs104895548
rs104895548
1.000 19 54939626 missense variant A/C snv 3.5E-05
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1
0.800 0
dbSNP: rs104895549
rs104895549
1.000 19 54938222 missense variant G/A snv
CUI: C3463897
Disease: HYDATIDIFORM MOLE, RECURRENT, 1
HYDATIDIFORM MOLE, RECURRENT, 1
0.800 0
dbSNP: rs1051597475
rs1051597475
1.000 4 122226815 missense variant C/T snv
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME
0.800 0
dbSNP: rs1057515579
rs1057515579
C1R
0.925 0.160 12 7088856 missense variant A/G snv
EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
0.800 0
dbSNP: rs1057517195
rs1057517195
0.925 0.160 11 6391622 missense variant C/T snv 2.4E-05 3.5E-05
CUI: C0268242
Disease: Niemann-Pick Disease, Type A
Niemann-Pick Disease, Type A
0.800 0
dbSNP: rs1057517662
rs1057517662
1.000 5 151667555 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4225301
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII
0.800 0
dbSNP: rs1057517663
rs1057517663
1.000 5 151664183 missense variant C/T snv
CUI: C4225301
Disease: OSTEOGENESIS IMPERFECTA, TYPE XVII
OSTEOGENESIS IMPERFECTA, TYPE XVII
0.800 0
dbSNP: rs1057517665
rs1057517665
1.000 10 49611297 missense variant G/C snv
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
0.800 0
dbSNP: rs1057517666
rs1057517666
1.000 10 49611932 missense variant G/C snv
MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
0.800 0
dbSNP: rs1057517672
rs1057517672
1.000 14 91234830 missense variant A/G snv
AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6
0.800 0
dbSNP: rs1057517678
rs1057517678
1.000 4 105386625 missense variant T/G snv
CUI: C4310664
Disease: SUDDEN CARDIAC FAILURE, INFANTILE
SUDDEN CARDIAC FAILURE, INFANTILE
0.800 0