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: rs1000990130
rs1000990130
1.000 0.120 12 76346999 missense variant G/A snv 7.0E-06
CUI: C1859568
Disease: BARDET-BIEDL SYNDROME 10
BARDET-BIEDL SYNDROME 10
0.700 0
dbSNP: rs1001570418
rs1001570418
1.000 0.080 15 89325609 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.700 0
dbSNP: rs1002088882
rs1002088882
0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque
0.700 0
dbSNP: rs1002088882
rs1002088882
0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06
CUI: C0002982
Disease: Angioid Streaks
Angioid Streaks
0.700 0
dbSNP: rs1002088882
rs1002088882
0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.700 0
dbSNP: rs1002088882
rs1002088882
0.925 0.200 16 16219834 stop gained C/T snv 7.1E-06
CUI: C0332563
Disease: Papule
Papule
0.700 0
dbSNP: rs1003158162
rs1003158162
1.000 0.080 2 178531968 missense variant G/A snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
0.700 0
dbSNP: rs1003442806
rs1003442806
1.000 0.080 15 89322875 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
0.700 0
dbSNP: rs1003611285
rs1003611285
1.000 0.120 19 12893590 missense variant G/A;T snv 7.0E-06
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
0.700 0
dbSNP: rs1004881058
rs1004881058
1.000 0.080 20 1980471 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1853250
Disease: SPINOCEREBELLAR ATAXIA 23
SPINOCEREBELLAR ATAXIA 23
0.700 0
dbSNP: rs1005389790
rs1005389790
1.000 2 227101899 missense variant C/A;T snv
ALPORT SYNDROME 3, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs1005542482
rs1005542482
1.000 0.120 6 80106694 start lost A/G;T snv 1.3E-05 1.4E-05
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease
0.700 0
dbSNP: rs1005687078
rs1005687078
1.000 0.080 11 64753928 missense variant A/G snv 2.8E-05
CUI: C0017924
Disease: Glycogen Storage Disease Type V
Glycogen Storage Disease Type V
0.700 0
dbSNP: rs1006060877
rs1006060877
1.000 0.080 13 23354743 frameshift variant C/- del 1.4E-05
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
0.700 0
dbSNP: rs1006150317
rs1006150317
1.000 0.120 19 12891875 stop gained G/T snv
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1
0.700 0
dbSNP: rs1006158872
rs1006158872
MPL
1.000 0.080 1 43346931 missense variant G/C snv 4.0E-06 7.0E-06
Congenital amegakaryocytic thrombocytopenia
0.700 0
dbSNP: rs10065172
rs10065172
0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21
CUI: C2677079
Disease: Inflammatory Bowel Disease 19
Inflammatory Bowel Disease 19
0.700 0
dbSNP: rs1006839535
rs1006839535
1.000 0.200 4 78526552 stop gained C/G snv
CUI: C4551480
Disease: FRASER SYNDROME 1
FRASER SYNDROME 1
0.700 0
dbSNP: rs1006906224
rs1006906224
1.000 0.040 5 177211437 stop gained C/G;T snv
CUI: C4551477
Disease: SOTOS SYNDROME 1
SOTOS SYNDROME 1
0.700 0
dbSNP: rs1006935198
rs1006935198
0.882 0.080 17 8015048 stop gained C/G snv
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis
0.700 0
dbSNP: rs1006935198
rs1006935198
0.882 0.080 17 8015048 stop gained C/G snv
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2
0.700 0
dbSNP: rs1006935198
rs1006935198
0.882 0.080 17 8015048 stop gained C/G snv
Amaurosis congenita of Leber, type 1
0.700 0
dbSNP: rs1006994885
rs1006994885
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C0021775
Disease: Intermittent Claudication
Intermittent Claudication
0.700 0
dbSNP: rs1006994885
rs1006994885
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C0033847
Disease: Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum
0.700 0
dbSNP: rs1006994885
rs1006994885
1.000 0.160 16 16150577 splice donor variant C/A;G snv
CUI: C0241148
Disease: Cutaneous plaque
Cutaneous plaque
0.700 0