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 200 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
B7U540 non-pleiotropic VAR_063289 p.Lys366Arg Disease - - Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239]
P63252 pleiotropic VAR_065862 p.Thr75Arg Disease - - Long QT syndrome 7 (LQT7) [MIM:170390]
P63252 pleiotropic VAR_017852 p.Asp71Val Disease - - Long QT syndrome 7 (LQT7) [MIM:170390]
P63252 pleiotropic VAR_065864 p.Thr305Pro Disease - - Long QT syndrome 7 (LQT7) [MIM:170390]
P63252 pleiotropic VAR_017856 p.Arg218Trp Disease - - Long QT syndrome 7 (LQT7) [MIM:170390]
P63252 pleiotropic VAR_017858 p.Val302Met Disease - - Long QT syndrome 7 (LQT7) [MIM:170390]
P63252 pleiotropic VAR_017854 p.Pro186Leu Disease - - Long QT syndrome 7 (LQT7) [MIM:170390]
P63252 pleiotropic VAR_065863 p.Val93Ile Disease - - Atrial fibrillation, familial, 9 (ATFB9) [MIM:613980]
P63252 pleiotropic VAR_017855 p.Asn216His Disease - - Long QT syndrome 7 (LQT7) [MIM:170390]
P63252 pleiotropic VAR_017851 p.Arg67Trp Disease - - Long QT syndrome 7 (LQT7) [MIM:170390]
P63252 pleiotropic VAR_065861 p.Cys54Phe Disease - - Long QT syndrome 7 (LQT7) [MIM:170390]
P63252 pleiotropic VAR_017857 p.Gly300Val Disease - - Long QT syndrome 7 (LQT7) [MIM:170390]
P63252 pleiotropic VAR_023842 p.Asp172Asn Disease - - Short QT syndrome 3 (SQT3) [MIM:609622]
P48544 pleiotropic VAR_065931 p.Thr158Ala Disease - - Familial hyperaldosteronism 3 (FH3) [MIM:613677]
P48544 pleiotropic VAR_063107 p.Gln282Glu Non-Disease rs7102584 0.005 -
P48544 pleiotropic VAR_067090 p.Gly151Glu Disease - - Familial hyperaldosteronism 3 (FH3) [MIM:613677]
P48544 pleiotropic VAR_065929 p.Arg39His Non-Disease - - -
P48544 pleiotropic VAR_063766 p.Gly387Arg Disease rs199830292 0.0002 Long QT syndrome 13 (LQT13) [MIM:613485]
P48544 pleiotropic VAR_065933 p.Met210Ile Non-Disease rs138295501 - -
P48544 pleiotropic VAR_065930 p.Gly151Arg Disease - - Familial hyperaldosteronism 3 (FH3) [MIM:613677]
Q15842 non-pleiotropic VAR_049670 p.Val334Ala Non-Disease rs34811413 0.0198 -
Q15842 non-pleiotropic VAR_065225 p.Ser422Leu Non-Disease rs72554071 0.0002 -
Q15842 non-pleiotropic VAR_065879 p.Val346Ile Disease - - Sudden infant death syndrome (SIDS) [MIM:272120]
O14649 non-pleiotropic VAR_070131 p.Val221Leu Disease - - Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14649 non-pleiotropic VAR_070126 p.Thr8Lys Disease - - Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14649 non-pleiotropic VAR_070127 p.Gly97Arg Disease - - Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14649 non-pleiotropic VAR_070130 p.Gly203Asp Disease - - Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14649 non-pleiotropic VAR_070129 p.Tyr192Cys Disease - - Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
O14649 non-pleiotropic VAR_070128 p.Glu182Lys Disease - - Pulmonary hypertension, primary, 4 (PPH4) [MIM:615344]
Q9NPC2 non-pleiotropic VAR_054373 p.Gly236Arg Disease - - Birk-Barel mental retardation dysmorphism syndrome (BIBAS) [MIM:612292]
Q12791 non-pleiotropic VAR_023821 p.Asp434Gly Disease - - Generalized epilepsy and paroxysmal dyskinesia (GEPD) [MIM:609446]
P51787 pleiotropic VAR_001545 p.Arg555Cys Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_009928 p.Ser349Trp Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_068307 p.Gly316Arg Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_001543 p.Arg366Pro Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_009181 p.Ala525Thr Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_068292 p.Ile204Phe Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_068303 p.Ala302Val Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_023841 p.Val307Leu Disease - - Short QT syndrome 2 (SQT2) [MIM:609621]
P51787 pleiotropic VAR_068324 p.Gly626Ser Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_001529 p.Thr309Arg Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_068315 p.Val524Gly Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_009919 p.Glu160Lys Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_008948 p.Arg366Trp Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_015742 p.Ser140Gly Disease - - Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554]
P51787 pleiotropic VAR_001521 p.Gly216Arg Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_009925 p.Gly269Ser Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_001520 p.Arg190Gln Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_001523 p.Glu261Lys Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]
P51787 pleiotropic VAR_068288 p.Glu115Gly Disease - - Long QT syndrome 1 (LQT1) [MIM:192500]