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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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 193 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P06213 pleiotropic VAR_004089 p.Asn489Ser Disease rs28933085 - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_004091 p.Val1012Met Non-Disease rs1799816 0.0037 -
P06213 pleiotropic VAR_015907 p.Asp86Gly Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_004079 p.Asn42Lys Disease - - Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213 pleiotropic VAR_015927 p.Arg1158Gln Disease - - Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P06213 pleiotropic VAR_004094 p.Ala1075Asp Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_004082 p.Arg113Pro Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_015928 p.Arg1158Trp Disease - - Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213 pleiotropic VAR_004100 p.Trp1220Leu Disease rs52800171 - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_004095 p.Ala1161Thr Disease rs28933084 - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_031521 p.Asn458Asp Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_015910 p.Val167Leu Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_004084 p.His236Arg Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_058396 p.Tyr171His Non-Disease rs1051692 - -
P06213 pleiotropic VAR_015912 p.Cys301Tyr Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_015933 p.Tyr1361Cys Non-Disease rs13306449 0.0005 -
P06213 pleiotropic VAR_004096 p.Ala1162Glu Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_004085 p.Leu260Pro Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_004081 p.Gly58Arg Disease rs52836744 - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_015917 p.Thr858Ala Disease rs182552223 0.0004 Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P06213 pleiotropic VAR_031518 p.Leu120Gln Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_015932 p.Glu1206Lys Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_015916 p.Gln492Lys Non-Disease rs1131851 - -
P06213 pleiotropic VAR_015919 p.Arg926Trp Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_031520 p.Gly386Ser Disease - - Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213 pleiotropic VAR_015930 p.Arg1201Trp Disease - - Leprechaunism (LEPRCH) [MIM:246200]
Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213 pleiotropic VAR_041432 p.Leu1065Val Non-Disease rs56395521 0.0002 -
P06213 pleiotropic VAR_015542 p.Trp439Ser Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_015918 p.Ile925Thr Disease - - Leprechaunism (LEPRCH) [MIM:246200]
Q9Y283 non-pleiotropic VAR_022823 p.Leu493Ser Disease - - Nephronophthisis 2 (NPHP2) [MIM:602088]
Q9Y283 non-pleiotropic VAR_044119 p.Ser242Leu Non-Disease rs2491097 0.0046 -
Q9Y283 non-pleiotropic VAR_022822 p.Pro482Arg Disease - - Nephronophthisis 2 (NPHP2) [MIM:602088]
Q9Y283 non-pleiotropic VAR_044120 p.Ser888Arg Non-Disease rs1052867 - -
Q5JU85 non-pleiotropic VAR_063742 p.Arg349Cys Disease - - Mental retardation, X-linked 1 (MRX1) [MIM:309530]
Q5JU85 non-pleiotropic VAR_063743 p.Arg748Gln Disease - - Mental retardation, X-linked 1 (MRX1) [MIM:309530]
Q5JU85 non-pleiotropic VAR_063744 p.Gln791Pro Disease - - Mental retardation, X-linked 1 (MRX1) [MIM:309530]
Q5JU85 non-pleiotropic VAR_063745 p.Arg853Trp Disease - - Mental retardation, X-linked 1 (MRX1) [MIM:309530]
O14896 pleiotropic VAR_014979 p.Val274Ile Non-Disease rs2235371 0.1377 -
O14896 pleiotropic VAR_014983 p.Lys320Glu Disease - - Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896 pleiotropic VAR_014976 p.Asp98His Disease - - Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896 pleiotropic VAR_014971 p.Arg84Cys Disease - - Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896 pleiotropic VAR_059080 p.Arg339Ile Disease - - Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896 pleiotropic VAR_014969 p.Pro76Ser Disease - - Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896 pleiotropic VAR_014970 p.Gln82Lys Disease - - Popliteal pterygium syndrome (PPS) [MIM:119500]
O14896 pleiotropic VAR_030050 p.Thr64Ile Disease - - Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896 pleiotropic VAR_030056 p.Arg400Trp Disease rs28942095 - Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896 pleiotropic VAR_014988 p.Phe369Ser Disease - - Non-syndromic orofacial cleft 6 (OFC6) [MIM:608864]
Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896 pleiotropic VAR_014973 p.Asn88His Disease - - Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896 pleiotropic VAR_014987 p.Cys347Phe Disease - - Van der Woude syndrome 1 (VWS1) [MIM:119300]
O14896 pleiotropic VAR_014962 p.Val18Ala Disease - - Van der Woude syndrome 1 (VWS1) [MIM:119300]