Source: UNIPROT

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
BBS10
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: rs1003158162
rs1003158162
TTN ; TTN-AS1
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: rs1003611285
rs1003611285
GCDH
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
PDYN ; PDYN-AS1
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: rs1005687078
rs1005687078
PYGM
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: rs1006158872
rs1006158872
MPL
1.000 0.080 1 43346931 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 		0.700 0
dbSNP: rs1007859875
rs1007859875
HMBS
1.000 0.160 11 119092137 missense variant G/A snv 4.0E-06 1.4E-05
CUI: C0162565
Disease: Acute intermittent porphyria
Acute intermittent porphyria 		0.700 0
dbSNP: rs1008642
rs1008642
CAV3 ; SSUH2
0.882 0.120 3 8733975 missense variant C/A;G;T snv 0.29
CUI: C1832560
Disease: RIPPLING MUSCLE DISEASE 2 (disorder)
RIPPLING MUSCLE DISEASE 2 (disorder) 		0.700 0
dbSNP: rs1010372555
rs1010372555
POLG
1.000 15 89318712 missense variant G/A;C snv 4.0E-06; 4.0E-06
CUI: C4225153
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1 		0.700 0
dbSNP: rs1010907740
rs1010907740
GPAA1
1.000 8 144084471 missense variant T/C snv
CUI: C4540520
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 		0.800 1.000 0 2017 2017
dbSNP: rs1010930015
rs1010930015
TBK1
1.000 0.040 12 64460250 missense variant A/C snv 4.2E-06
CUI: C4693542
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8 		0.800 0
dbSNP: rs1011539285
rs1011539285
PATL2
1.000 15 44669391 missense variant A/G snv 6.5E-06
CUI: C4540284
Disease: OOCYTE MATURATION DEFECT 4
OOCYTE MATURATION DEFECT 4 		0.700 0
dbSNP: rs10127939
rs10127939
FCGR3A
0.851 0.160 1 161548543 missense variant A/C;T snv 4.3E-02; 5.5E-02
CUI: C3810342
Disease: IMMUNODEFICIENCY 20
IMMUNODEFICIENCY 20 		0.700 0
dbSNP: rs1012947103
rs1012947103
PANK2
1.000 0.080 20 3912505 missense variant G/A snv 7.0E-06
CUI: C0018523
Disease: Hallervorden-Spatz Syndrome
Hallervorden-Spatz Syndrome 		0.700 0
dbSNP: rs1014317450
rs1014317450
CANT1
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: rs1014369151
rs1014369151
POLR1D ; LNX2
1.000 13 27623014 missense variant C/T snv
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2 		0.700 0
dbSNP: rs1014551540
rs1014551540
ASPA ; SPATA22
1.000 0.120 17 3489247 missense variant G/T snv 1.4E-05
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		0.700 1.000 2 2008 2009
dbSNP: rs1015051007
rs1015051007
CPS1
1.000 0.120 2 210612273 missense variant C/A;T snv 1.2E-05
CUI: C4082171
Disease: Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency
Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency 		0.700 1.000 15 1998 2016
dbSNP: rs10151259
rs10151259
RPGRIP1
1.000 0.080 14 21321881 missense variant G/T snv 0.20 0.22
CUI: C2750720
Disease: Cone-Rod Dystrophy 13
Cone-Rod Dystrophy 13 		0.700 0
dbSNP: rs1016604233
rs1016604233
TBXAS1
1.000 0.080 7 139911241 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs1017946059
rs1017946059
EVC
0.925 0.160 4 5731657 missense variant G/A snv 8.1E-06 7.0E-06
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.800 1.000 0 2010 2013
dbSNP: rs1018084204
rs1018084204
CHRNA2
0.925 0.080 8 27463317 missense variant G/A snv 4.0E-06
CUI: C1835905
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 4
Epilepsy, Nocturnal Frontal Lobe, Type 4 		0.700 1.000 1 2015 2015
dbSNP: rs1020175890
rs1020175890
PAX3 ; LOC107985991
1.000 0.040 2 222221362 missense variant C/T snv
CUI: C1847800
Disease: Waardenburg Syndrome Type 1
Waardenburg Syndrome Type 1 		0.700 1.000 1 2014 2014
dbSNP: rs1021330566
rs1021330566
EARS2
1.000 16 23544679 missense variant C/T snv 7.0E-06
CUI: C3554079
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 		0.800 0
dbSNP: rs1021988376
rs1021988376
ABCB4
1.000 0.040 7 87453103 missense variant C/T snv
CUI: C1865643
Disease: Cholestasis, progressive familial intrahepatic 3
Cholestasis, progressive familial intrahepatic 3 		0.700 0