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 58 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P56539 pleiotropic VAR_010743 p.Cys72Trp Non-Disease rs116840776 0.0018 -
P56539 pleiotropic VAR_016207 p.Leu87Pro Disease rs28936685 - Rippling muscle disease (RMD) [MIM:606072]
P56539 pleiotropic VAR_043699 p.Ser141Arg Disease - - Long QT syndrome 9 (LQT9) [MIM:611818]
P56539 pleiotropic VAR_029545 p.Arg126His Non-Disease - - -
P56539 pleiotropic VAR_011512 p.Arg27Gln Disease - - HyperCKmia (HYPCK) [MIM:123320]
Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801]
Myopathy, distal, Tateyama type (MPDT) [MIM:614321]
Rippling muscle disease (RMD) [MIM:606072]
P56539 pleiotropic VAR_015374 p.Asp28Glu Disease - - Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801]
Rippling muscle disease (RMD) [MIM:606072]
P56539 pleiotropic VAR_043695 p.Thr78Met Disease rs72546668 0.002 Long QT syndrome 9 (LQT9) [MIM:611818]
Sudden infant death syndrome (SIDS) [MIM:272120]
P56539 pleiotropic VAR_021016 p.Asn33Lys Disease rs1008642 0.371 Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801]
Myopathy, distal, Tateyama type (MPDT) [MIM:614321]
P56539 pleiotropic VAR_043696 p.Leu79Arg Disease - - Long QT syndrome 9 (LQT9) [MIM:611818]
Sudden infant death syndrome (SIDS) [MIM:272120]
P56539 pleiotropic VAR_016208 p.Ala93Thr Disease rs28936686 0.0002 Rippling muscle disease (RMD) [MIM:606072]
P56539 pleiotropic VAR_001403 p.Pro105Leu Disease - - Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801]
Rippling muscle disease (RMD) [MIM:606072]
P56539 pleiotropic VAR_043694 p.Val14Leu Disease rs121909281 0.0012 Sudden infant death syndrome (SIDS) [MIM:272120]
P56539 pleiotropic VAR_011514 p.Ala46Val Disease - - Rippling muscle disease (RMD) [MIM:606072]
P22681 non-pleiotropic VAR_064332 p.Gln367Pro Disease - - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
P22681 non-pleiotropic VAR_064334 p.Asp390Tyr Disease - - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
P22681 non-pleiotropic VAR_064335 p.Arg420Gln Disease - - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
P22681 non-pleiotropic VAR_057213 p.Val904Ile Non-Disease rs17122769 0.0037 -
P22681 non-pleiotropic VAR_064333 p.Lys382Glu Disease - - Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563]
P22681 non-pleiotropic VAR_057211 p.Leu620Phe Non-Disease rs2227988 0.0101 -
P22681 non-pleiotropic VAR_057212 p.Pro782Leu Non-Disease rs2229073 0.0 -
Q14781 non-pleiotropic VAR_063751 p.Pro98Leu Disease rs121908255 - 46,XY sex reversal 5 (SRXY5) [MIM:613080]
Q14781 non-pleiotropic VAR_063752 p.Arg443Pro Disease rs121908256 - 46,XY sex reversal 5 (SRXY5) [MIM:613080]
Q9P2K1 pleiotropic VAR_062806 p.Asp1556Val Disease - - Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1 pleiotropic VAR_062293 p.Thr1114Met Disease - - Joubert syndrome 9 (JBTS9) [MIM:612285]
Meckel syndrome 6 (MKS6) [MIM:612284]
Q9P2K1 pleiotropic VAR_038489 p.Glu376Ala Non-Disease rs16892095 0.1208 -
Q9P2K1 pleiotropic VAR_062805 p.Lys800Glu Non-Disease - - -
Q9P2K1 pleiotropic VAR_062804 p.Pro721Ser Disease - - Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1 pleiotropic VAR_063804 p.Thr1116Met Disease - - COACH syndrome (COACHS) [MIM:216360]
Q9P2K1 pleiotropic VAR_055324 p.Leu1551Pro Disease - - Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1 pleiotropic VAR_055323 p.Arg1528Cys Disease - - COACH syndrome (COACHS) [MIM:216360]
Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1 pleiotropic VAR_069046 p.Tyr1568His Disease - - Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1 pleiotropic VAR_055322 p.Pro1122Ser Disease - - Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1 pleiotropic VAR_038490 p.Val660Ile Non-Disease rs16892134 0.0023 -
Q9P2K1 pleiotropic VAR_068169 p.Glu1126Lys Disease - - Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1 pleiotropic VAR_055321 p.Gln1096His Disease - - Joubert syndrome 9 (JBTS9) [MIM:612285]
Q9P2K1 pleiotropic VAR_069045 p.Asn1520Ser Disease - - Joubert syndrome 9 (JBTS9) [MIM:612285]
Q6UXH8 non-pleiotropic VAR_063748 p.Arg158Cys Disease rs121908253 0.0002 Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
Q6UXH8 non-pleiotropic VAR_063746 p.Cys75Ser Disease rs121908250 - Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
Q6UXH8 non-pleiotropic VAR_063747 p.Cys102Ser Disease rs121908251 - Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
Q6UXH8 non-pleiotropic VAR_063749 p.Cys174Arg Disease rs121908254 - Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
Q6UXH8 non-pleiotropic VAR_048971 p.Val193Gly Non-Disease rs11659589 - -
Q6UXH8 non-pleiotropic VAR_063750 p.Gly327Arg Disease rs121908252 - Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]
Q8IW40 non-pleiotropic VAR_068449 p.His154Pro Disease - - Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679]
Q9BSQ5 non-pleiotropic VAR_067353 p.Leu229Gln Disease - - Cerebral cavernous malformations 2 (CCM2) [MIM:603284]
Q9BSQ5 non-pleiotropic VAR_023576 p.Val120Ile Non-Disease rs11552377 0.1162 -
Q9BSQ5 non-pleiotropic VAR_023577 p.Leu198Arg Disease - - Cerebral cavernous malformations 2 (CCM2) [MIM:603284]
Q9BSQ5 non-pleiotropic VAR_067352 p.Gln215His Disease - - Cerebral cavernous malformations 2 (CCM2) [MIM:603284]
Q9BSQ5 non-pleiotropic VAR_050768 p.Ser289Asn Non-Disease rs2289366 0.0133 -
Q9BSQ5 non-pleiotropic VAR_023575 p.Val53Ile Non-Disease rs2107732 0.0468 -
P48643 non-pleiotropic VAR_030658 p.His147Arg Disease - - Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive (HSNSP) [MIM:256840]