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: rs121918549
rs121918549
0.882 0.080 12 53321423 stop gained G/A;T snv 4.0E-06; 1.8E-04
Glucocorticoid deficiency with achalasia
0.810 1.000 1 2001 2012
dbSNP: rs121918550
rs121918550
1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
Glucocorticoid deficiency with achalasia
0.810 1.000 1 2001 2008
dbSNP: rs1297831120
rs1297831120
1.000 0.080 12 53314817 missense variant T/C snv
Glucocorticoid deficiency with achalasia
0.700 0
dbSNP: rs121434511
rs121434511
0.882 0.080 2 218270561 missense variant C/T snv
Paroxysmal Nonkinesigenic Dyskinesia 1
0.820 1.000 6 2004 2011
dbSNP: rs121434512
rs121434512
0.925 0.080 2 218270555 missense variant C/T snv
Paroxysmal Nonkinesigenic Dyskinesia 1
0.820 1.000 6 2004 2012
dbSNP: rs387906792
rs387906792
1.000 0.080 16 70277088 missense variant T/A snv
Charcot-Marie-Tooth Disease, Axonal, Type 2n
0.800 1.000 3 2010 2012
dbSNP: rs143370729
rs143370729
1.000 16 70255763 missense variant T/C snv 4.8E-05 4.2E-05
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
0.700 0
dbSNP: rs786205157
rs786205157
1.000 16 70277057 missense variant T/G snv 7.0E-06
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
0.800 0
dbSNP: rs369774476
rs369774476
1.000 16 70252890 missense variant C/T snv 2.4E-05 1.4E-05
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
0.700 1.000 2 2015 2017
dbSNP: rs387907061
rs387907061
1.000 6 44311507 missense variant A/C snv 1.2E-05 1.4E-05
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 1.000 1 2011 2011
dbSNP: rs587777590
rs587777590
1.000 6 44313175 missense variant A/C snv
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
0.800 1.000 1 2014 2014
dbSNP: rs543267101
rs543267101
1.000 6 44300612 missense variant C/T snv 4.0E-05 4.2E-05
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
0.800 1.000 1 2014 2014
dbSNP: rs587777592
rs587777592
1.000 6 44306367 missense variant C/T snv 1.6E-05 7.0E-06
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
0.800 1.000 1 2014 2014
dbSNP: rs138119149
rs138119149
0.807 0.280 6 44304512 missense variant G/A snv 2.1E-04 2.4E-04
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
0.800 1.000 0 2011 2018
dbSNP: rs1337040042
rs1337040042
1.000 0.040 17 81131085 start lost T/C snv
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma
0.700 0
dbSNP: rs121434578
rs121434578
1.000 0.080 16 8768248 missense variant G/A snv
Gamma aminobutyric acid transaminase deficiency
0.800 1.000 2 1999 2013
dbSNP: rs137854494
rs137854494
1.000 0.120 9 104806276 missense variant A/G snv 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
0.800 1.000 20 1999 2013
dbSNP: rs137854495
rs137854495
1.000 0.120 9 104822514 missense variant G/A snv 1.2E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
0.800 1.000 20 1999 2013
dbSNP: rs137854496
rs137854496
1.000 0.120 9 104831048 missense variant C/A;G snv 5.6E-05; 4.0E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
0.720 1.000 20 1999 2013
dbSNP: rs137854497
rs137854497
1.000 0.120 9 104804668 missense variant G/A snv 4.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
0.800 1.000 20 1999 2013
dbSNP: rs137854498
rs137854498
1.000 0.120 9 104798504 missense variant G/A;T snv 8.0E-06; 8.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
0.710 1.000 20 1999 2013
dbSNP: rs137854500
rs137854500
1.000 0.120 9 104814154 missense variant C/T snv 2.4E-05
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
0.800 1.000 20 1999 2013
dbSNP: rs137854501
rs137854501
1.000 0.120 9 104786940 missense variant G/A snv 7.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
0.800 1.000 20 1999 2013
dbSNP: rs146292819
rs146292819
0.790 0.240 9 104794495 missense variant T/G snv 2.9E-04 3.8E-04
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
0.700 1.000 20 1999 2013
dbSNP: rs28937313
rs28937313
0.882 0.160 9 104822520 missense variant T/C snv 8.0E-06
CUI: C0039292
Disease: Tangier Disease
Tangier Disease
0.800 1.000 20 1999 2013