Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

Refine Search

UniProtID
Disease name
Protein type
Variant type
Use data from

Show per page.

Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

20135 items found (page 184 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P26439 non-pleiotropic VAR_010526 p.Leu173Arg Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010533 p.Leu236Ser Disease rs35887327 0.0124 Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010534 p.Thr259Met Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010523 p.Gly129Arg Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_000008 p.Ala245Pro Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_065665 p.Pro341Leu Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_014818 p.Glu94Gln Non-Disease rs6211 0.0018 -
P26439 non-pleiotropic VAR_010524 p.Pro155Leu Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010531 p.Pro222Gln Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010528 p.Ser213Gly Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010522 p.Leu108Trp Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010517 p.Ala10Glu Disease rs28934880 - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_000011 p.Thr259Arg Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_048099 p.Asp74Asn Non-Disease rs4986954 0.0018 -
P26439 non-pleiotropic VAR_010535 p.Gly294Val Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010525 p.Ala167Val Disease rs35486059 0.0006 Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010518 p.Ala10Val Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010520 p.Ala82Thr Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010521 p.Asn100Ser Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
P26439 non-pleiotropic VAR_010527 p.Pro186Leu Disease - - Adrenal hyperplasia 2 (AH2) [MIM:201810]
Q9H2F3 non-pleiotropic VAR_054776 p.Glu147Lys Disease - - Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]
Q9H2F3 non-pleiotropic VAR_054775 p.Gly19Ser Disease - - Congenital bile acid synthesis defect 1 (CBAS1) [MIM:607765]
Q9H2F3 non-pleiotropic VAR_048100 p.Leu347Pro Non-Disease rs34212827 0.0753 -
Q9H2F3 non-pleiotropic VAR_031040 p.Thr250Ala Non-Disease rs9938550 0.3765 -
Q9ULV5 non-pleiotropic VAR_017559 p.Ile86Val Disease - - Cataract 5, multiple types (CTRCT5) [MIM:116800]
Q9ULV5 non-pleiotropic VAR_017560 p.Leu114Pro Disease - - Cataract 5, multiple types (CTRCT5) [MIM:116800]
Q9ULV5 non-pleiotropic VAR_017561 p.Arg119Cys Disease rs28937573 - Cataract 5, multiple types (CTRCT5) [MIM:116800]
Q9ULV5 non-pleiotropic VAR_017558 p.Ala19Asp Disease - - Cataract 5, multiple types (CTRCT5) [MIM:116800]
Q9ULV5 non-pleiotropic VAR_029018 p.Arg73His Disease - - Cataract 5, multiple types (CTRCT5) [MIM:116800]
P04792 pleiotropic VAR_018509 p.Thr151Ile Disease - - Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792 pleiotropic VAR_067085 p.Thr164Ala Disease - - Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]
P04792 pleiotropic VAR_018507 p.Ser135Phe Disease - - Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]
Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792 pleiotropic VAR_018508 p.Arg136Trp Disease - - Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595]
P04792 pleiotropic VAR_018510 p.Pro182Leu Disease - - Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
P04792 pleiotropic VAR_018506 p.Arg127Trp Disease - - Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634]
Q12988 non-pleiotropic VAR_061271 p.Gly67Ser Non-Disease rs35258119 0.0055 -
Q12988 non-pleiotropic VAR_063773 p.Arg7Ser Disease - - Neuronopathy, distal hereditary motor, 2C (HMN2C) [MIM:613376]
Q9UJY1 pleiotropic VAR_018505 p.Lys141Asn Disease - - Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673]
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]
Q9UJY1 pleiotropic VAR_042245 p.Arg78Met Non-Disease rs55826713 0.0002 -
Q9UJY1 pleiotropic VAR_018504 p.Lys141Glu Disease - - Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590]
P10809 pleiotropic VAR_054785 p.Asp29Gly Disease - - Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233]
P10809 pleiotropic VAR_026748 p.Val98Ile Disease - - Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280]
O43464 non-pleiotropic VAR_027349 p.Ala141Ser Non-Disease rs72470544 0.0156 -
O43464 non-pleiotropic VAR_027350 p.Gly399Ser Disease rs72470545 0.0036 Parkinson disease 13 (PARK13) [MIM:610297]
O43464 non-pleiotropic VAR_046134 p.Leu72Pro Non-Disease rs150047108 0.0014 -
Q12794 non-pleiotropic VAR_023643 p.Glu268Lys Disease - - Mucopolysaccharidosis 9 (MPS9) [MIM:601492]
Q96M11 non-pleiotropic VAR_031867 p.Asp211Gly Disease rs104894232 0.0006 Hydrolethalus syndrome 1 (HLS1) [MIM:236680]
Q96M11 non-pleiotropic VAR_031866 p.Cys31Arg Non-Disease rs667782 0.298 -
Q5T440 non-pleiotropic VAR_030794 p.Gly211Ser Non-Disease rs2298014 0.1841 -
Q5T440 non-pleiotropic VAR_069821 p.Gln314Pro Disease - - Multiple mitochondrial dysfunctions syndrome 3 (MMDS3) [MIM:615330]