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 57 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P41180 pleiotropic VAR_020220 p.Pro951Thr Non-Disease rs4987051 - -
P41180 pleiotropic VAR_058046 p.Leu11Ser Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003597 p.Cys582Tyr Disease - - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
P41180 pleiotropic VAR_060206 p.Glu354Ala Disease - - Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
P41180 pleiotropic VAR_003600 p.Phe806Ser Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058054 p.Cys131Trp Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_060210 p.Ala988Val Disease - - Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
P41180 pleiotropic VAR_058080 p.Phe788Leu Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058082 p.Ala843Glu Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_003596 p.Glu297Lys Disease - - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058081 p.Ser820Phe Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_060208 p.Arg898Gln Disease - - Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
P41180 pleiotropic VAR_058076 p.Val728Phe Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003586 p.Arg62Met Disease - - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058071 p.Phe612Ser Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_065494 p.Val697Met Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003593 p.Arg185Gln Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058084 p.Arg886Trp Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058061 p.Glu250Lys Non-Disease rs62269092 0.0005 -
P41180 pleiotropic VAR_058065 p.Gly509Arg Disease rs193922423 - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003592 p.Leu174Arg Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003591 p.Gly143Glu Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003601 p.Cys851Ser Non-Disease - - -
P41180 pleiotropic VAR_003590 p.Thr138Met Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058078 p.Leu773Arg Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058050 p.Lys47Asn Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058057 p.Phe180Cys Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_014451 p.Gln1011Glu Non-Disease rs1801726 0.0759 -
P41180 pleiotropic VAR_058070 p.Glu604Lys Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_014450 p.Ala986Ser Non-Disease rs1801725 0.0762 -
P41180 pleiotropic VAR_003595 p.Arg227Gln Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058079 p.Phe788Cys Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058067 p.Ile555Val Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_020221 p.Arg990Gly Non-Disease rs1042636 0.2071 -
P41180 pleiotropic VAR_058062 p.Ser271Phe Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058063 p.Gly397Arg Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058069 p.Cys582Phe Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058064 p.Arg465Gln Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058053 p.Phe128Leu Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058056 p.Ser171Asn Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P56539 pleiotropic VAR_011513 p.Ala46Thr Disease - - Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801]
Rippling muscle disease (RMD) [MIM:606072]
P56539 pleiotropic VAR_010742 p.Val57Met Disease - - HyperCKmia (HYPCK) [MIM:123320]
P56539 pleiotropic VAR_021018 p.Thr64Pro Disease - - Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801]
P56539 pleiotropic VAR_029543 p.Thr64Ser Disease - - Cardiomyopathy, familial hypertrophic (CMH) [MIM:192600]
P56539 pleiotropic VAR_021017 p.Val44Glu Disease - - Limb-girdle muscular dystrophy 1C (LGMD1C) [MIM:607801]
P56539 pleiotropic VAR_043698 p.Phe97Cys Disease - - Long QT syndrome 9 (LQT9) [MIM:611818]
P56539 pleiotropic VAR_043697 p.Ala85Thr Disease - - Long QT syndrome 9 (LQT9) [MIM:611818]
P56539 pleiotropic VAR_029541 p.Ser53Gly Disease - - Rippling muscle disease (RMD) [MIM:606072]
P56539 pleiotropic VAR_029540 p.Pro29Leu Disease - - HyperCKmia (HYPCK) [MIM:123320]
P56539 pleiotropic VAR_029542 p.Gly56Ser Non-Disease rs72546667 0.0321 -