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 52 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P01024 pleiotropic VAR_029326 p.Ser1619Arg Non-Disease rs2230210 0.0009 -
P01024 pleiotropic VAR_063220 p.His1464Asp Disease - - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024 pleiotropic VAR_063217 p.Asp1115Asn Disease - - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
Q9H799 non-pleiotropic VAR_042948 p.Ile1437Thr Non-Disease rs6859950 0.0119 -
Q9H799 non-pleiotropic VAR_042951 p.Pro2592Leu Non-Disease rs16903518 0.0207 -
Q9H799 non-pleiotropic VAR_068167 p.Phe2033Ser Non-Disease rs10076911 0.1727 -
Q9H799 non-pleiotropic VAR_068165 p.Arg1336Trp Disease - - Joubert syndrome 17 (JBTS17) [MIM:614615]
Q9H799 non-pleiotropic VAR_042952 p.Gly3062Arg Non-Disease rs7702892 0.0207 -
Q9H799 non-pleiotropic VAR_042949 p.Phe2033Cys Non-Disease rs10076911 0.1492 -
Q9H799 non-pleiotropic VAR_042950 p.Ile2143Val Non-Disease rs6884652 0.045 -
Q9H799 non-pleiotropic VAR_068166 p.Pro1794Leu Non-Disease rs75589774 0.084 -
P10643 non-pleiotropic VAR_012645 p.Arg521Ser Disease rs121964920 0.001 Complement component 7 deficiency (C7D) [MIM:610102]
P10643 non-pleiotropic VAR_033799 p.Thr587Pro Non-Disease rs13157656 0.1809 -
P10643 non-pleiotropic VAR_050480 p.Cys128Arg Non-Disease rs2271708 0.0234 -
P10643 non-pleiotropic VAR_012647 p.Arg687His Disease - - Complement component 7 deficiency (C7D) [MIM:610102]
P10643 non-pleiotropic VAR_022023 p.Lys420Gln Non-Disease rs3792646 0.0038 -
P10643 non-pleiotropic VAR_012643 p.Arg220Gln Disease - - Complement component 7 deficiency (C7D) [MIM:610102]
P10643 non-pleiotropic VAR_012644 p.Gly379Arg Disease - - Complement component 7 deficiency (C7D) [MIM:610102]
P10643 non-pleiotropic VAR_012646 p.Glu682Gln Disease - - Complement component 7 deficiency (C7D) [MIM:610102]
P10643 non-pleiotropic VAR_033798 p.Ser389Thr Non-Disease rs1063499 0.4894 -
O43570 non-pleiotropic VAR_065292 p.Glu143Lys Disease - - Hyperchlorhidrosis, isolated (HCHLH) [MIM:143860]
P00918 non-pleiotropic VAR_001382 p.His107Tyr Disease - - Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
P00918 non-pleiotropic VAR_001384 p.Asn252Asp Non-Disease rs2228063 0.0285 -
P00918 non-pleiotropic VAR_021010 p.Gly144Arg Disease - - Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
P00918 non-pleiotropic VAR_001381 p.Gln92Pro Disease - - Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
P00918 non-pleiotropic VAR_021009 p.His94Tyr Disease - - Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
P22748 non-pleiotropic VAR_024749 p.Arg14Trp Disease - - Retinitis pigmentosa 17 (RP17) [MIM:600852]
P22748 non-pleiotropic VAR_048680 p.Val237Leu Non-Disease rs2229178 0.0014 -
P22748 non-pleiotropic VAR_024750 p.Arg219Ser Disease - - Retinitis pigmentosa 17 (RP17) [MIM:600852]
P35219 non-pleiotropic VAR_063634 p.Ser100Pro Disease - - Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CMARQ3) [MIM:613227]
P57796 non-pleiotropic VAR_029375 p.Arg124Cys Disease rs121917828 0.0004 Night blindness, congenital stationary, 2B (CSNB2B) [MIM:610427]
O00555 pleiotropic VAR_043832 p.Phe1403Cys Disease rs121908227 - Episodic ataxia 2 (EA2) [MIM:108500]
O00555 pleiotropic VAR_063689 p.Met798Thr Disease rs121908241 - Episodic ataxia 2 (EA2) [MIM:108500]
O00555 pleiotropic VAR_067342 p.Glu388Lys Disease - - Episodic ataxia 2 (EA2) [MIM:108500]
O00555 pleiotropic VAR_063684 p.Leu389Phe Disease rs121908239 - Episodic ataxia 2 (EA2) [MIM:108500]
O00555 pleiotropic VAR_043824 p.Cys287Tyr Disease rs121908236 - Episodic ataxia 2 (EA2) [MIM:108500]
O00555 pleiotropic VAR_063706 p.Val1695Ile Disease rs121908224 - Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555 pleiotropic VAR_043833 p.Val1456Leu Disease rs121908237 - Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555 pleiotropic VAR_063688 p.Gly638Asp Disease rs121908246 - Episodic ataxia 2 (EA2) [MIM:108500]
O00555 pleiotropic VAR_059221 p.Glu732Ala Non-Disease rs16019 0.0069 -
O00555 pleiotropic VAR_014463 p.Pro2394Ser Non-Disease rs16056 - -
O00555 pleiotropic VAR_043828 p.Glu993Val Non-Disease rs16023 0.1244 -
O00555 pleiotropic VAR_063685 p.Ala405Thr Disease rs1219082456Spinocerebellar - Spinocerebellar ataxia 6 (SCA6) [MIM:183086]
O00555 pleiotropic VAR_043825 p.Gly293Arg Disease rs121908215 - Episodic ataxia 2 (EA2) [MIM:108500]
Spinocerebellar ataxia 6 (SCA6) [MIM:183086]
O00555 pleiotropic VAR_063686 p.Ala454Thr Non-Disease rs41276886 0.0018 -
O00555 pleiotropic VAR_043823 p.Cys256Arg Disease rs121908231 - Episodic ataxia 2 (EA2) [MIM:108500]
O00555 pleiotropic VAR_059222 p.Pro1173Leu Non-Disease rs16028 - -
O00555 pleiotropic VAR_043827 p.Asp715Glu Disease rs121908218 - Migraine, familial hemiplegic, 1 (FHM1) [MIM:141500]
O00555 pleiotropic VAR_063687 p.Thr501Met Disease rs121908240 - Episodic ataxia 2 (EA2) [MIM:108500]
O00555 pleiotropic VAR_063683 p.Tyr248Cys Disease rs121908238 - Episodic ataxia 2 (EA2) [MIM:108500]