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.

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UniProtID
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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 24 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q99217 non-pleiotropic VAR_037581 p.Trp4Ser Disease - - Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
Q99217 non-pleiotropic VAR_037583 p.Pro56Thr Disease - - Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
Q99217 non-pleiotropic VAR_037582 p.Thr37Ile Disease - - Amelogenesis imperfecta 1E (AI1E) [MIM:301200]
P03971 non-pleiotropic VAR_007490 p.Arg194Cys Disease - - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971 non-pleiotropic VAR_007491 p.Gln325Arg Non-Disease rs140765565 0.0101 -
P03971 non-pleiotropic VAR_065100 p.Val515Ala Non-Disease rs10417628 0.006 -
P03971 non-pleiotropic VAR_007489 p.Gln185Glu Non-Disease - - -
P03971 non-pleiotropic VAR_007488 p.Tyr167Cys Disease - - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971 non-pleiotropic VAR_007492 p.Val477Ala Disease - - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971 non-pleiotropic VAR_007486 p.Gly101Val Disease - - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971 non-pleiotropic VAR_007487 p.Arg123Trp Disease - - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971 non-pleiotropic VAR_007485 p.Leu70Pro Disease - - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971 non-pleiotropic VAR_007483 p.Val12Gly Disease rs149082963 0.001 Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971 non-pleiotropic VAR_007484 p.Ser49Ile Non-Disease rs10407022 0.3269 -
P03971 non-pleiotropic VAR_031028 p.Cys525Tyr Disease - - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
P03971 non-pleiotropic VAR_031027 p.His506Gln Disease - - Persistent Muellerian duct syndrome 1 (PMDS1) [MIM:261550]
Q16671 non-pleiotropic VAR_015532 p.Arg504Cys Disease - - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671 non-pleiotropic VAR_015527 p.His282Gln Disease - - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671 non-pleiotropic VAR_015531 p.Asp491His Disease - - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671 non-pleiotropic VAR_015526 p.Gly142Val Disease - - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671 non-pleiotropic VAR_015525 p.Arg54Cys Disease - - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671 non-pleiotropic VAR_015529 p.Asp426Gly Disease - - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671 non-pleiotropic VAR_015530 p.Val458Ala Disease - - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671 non-pleiotropic VAR_015528 p.Arg406Gln Disease - - Persistent Muellerian duct syndrome 2 (PMDS2) [MIM:261550]
Q16671 non-pleiotropic VAR_069048 p.Arg319His Non-Disease rs144236183 - -
Q9BXJ7 non-pleiotropic VAR_015733 p.Thr41Ile Disease rs28939377 - Recessive hereditary megaloblastic anemia 1 (RH-MGA1) [MIM:261100]
P23109 non-pleiotropic VAR_013272 p.Arg458His Disease - - Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]
P23109 non-pleiotropic VAR_013271 p.Arg421Trp Disease rs35859650 0.0022 Myopathy due to myoadenylate deaminase deficiency (MMDD) [MIM:615511]
P23109 non-pleiotropic VAR_013270 p.Pro81Leu Non-Disease rs61752479 0.0546 -
P23109 non-pleiotropic VAR_048860 p.Glu55Lys Non-Disease rs2273268 0.0002 -
Q01432 non-pleiotropic VAR_042608 p.Ala320Val Disease - - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432 non-pleiotropic VAR_042607 p.Val311Leu Disease rs117706710 0.0028 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432 non-pleiotropic VAR_009881 p.Arg573Cys Disease rs3741040 0.0004 Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432 non-pleiotropic VAR_042611 p.Arg402Cys Disease - - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432 non-pleiotropic VAR_042606 p.Asn310Lys Disease - - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432 non-pleiotropic VAR_042615 p.Gln712Pro Disease - - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432 non-pleiotropic VAR_042610 p.Arg331Cys Disease - - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432 non-pleiotropic VAR_042612 p.Trp450Arg Disease - - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432 non-pleiotropic VAR_042609 p.Met324Thr Disease - - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432 non-pleiotropic VAR_042614 p.Pro585Leu Disease - - Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]
Q01432 non-pleiotropic VAR_042613 p.Tyr455His Non-Disease rs36003153 0.0188 -
Q01432 non-pleiotropic VAR_033499 p.Arg185Trp Non-Disease rs11042836 0.0349 -
P48728 non-pleiotropic VAR_007955 p.Arg320His Disease - - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728 non-pleiotropic VAR_007953 p.Gly269Asp Disease - - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728 non-pleiotropic VAR_016848 p.Glu211Lys Disease rs116192290 0.0072 Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728 non-pleiotropic VAR_007954 p.Asp276His Disease - - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728 non-pleiotropic VAR_007952 p.Gly47Arg Disease - - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728 non-pleiotropic VAR_016847 p.Asn145Ile Disease - - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P48728 non-pleiotropic VAR_007951 p.His42Arg Disease - - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P03950 non-pleiotropic VAR_044157 p.His138Arg Disease - - Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895]