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 56 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q8NG31 non-pleiotropic VAR_026429 p.Thr70Ala Non-Disease rs16970874 - -
Q8NG31 non-pleiotropic VAR_069085 p.Met2041Ile Disease - - Microcephaly 4, primary, autosomal recessive (MCPH4) [MIM:604321]
Q8NG31 non-pleiotropic VAR_026431 p.Ala486Ser Non-Disease rs2412541 0.3416 -
Q8NG31 non-pleiotropic VAR_061568 p.Met177Val Non-Disease rs35146555 0.0046 -
Q8NG31 non-pleiotropic VAR_026434 p.Thr1473Ala Non-Disease rs16970911 0.0478 -
Q8NG31 non-pleiotropic VAR_026428 p.Arg43Thr Non-Disease rs7177192 0.3416 -
Q8NG31 non-pleiotropic VAR_054342 p.Met598Thr Non-Disease rs11858113 0.348 -
Q8NG31 non-pleiotropic VAR_061570 p.Cys2338Tyr Non-Disease rs61164860 0.0 -
Q92851 pleiotropic VAR_037430 p.Ala414Val Disease rs28936699 - Familial non-Hodgkin lymphoma (NHL) [MIM:605027]
Q92851 pleiotropic VAR_037429 p.Ile406Leu Disease rs80358239 0.0048 Autoimmune lymphoproliferative syndrome 2A (ALPS2A) [MIM:603909]
Q92851 pleiotropic VAR_014071 p.Leu285Phe Disease rs17860403 - Autoimmune lymphoproliferative syndrome 2A (ALPS2A) [MIM:603909]
Q92851 pleiotropic VAR_014072 p.Val410Ile Non-Disease rs13010627 0.0285 -
Q92851 pleiotropic VAR_037431 p.Tyr446Cys Non-Disease rs17860405 0.0225 -
Q92851 pleiotropic VAR_055362 p.Pro444Ser Non-Disease rs41513147 - -
Q92851 pleiotropic VAR_055361 p.Ser239Cys Non-Disease rs41473647 0.0014 -
Q92851 pleiotropic VAR_037428 p.Met147Thr Disease rs121909776 0.0002 Gastric cancer (GASC) [MIM:613659]
O14958 non-pleiotropic VAR_067036 p.His244Arg Non-Disease rs28730716 0.0234 -
O14958 non-pleiotropic VAR_016075 p.Asp307His Disease - - Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]
O14958 non-pleiotropic VAR_023693 p.Val76Met Non-Disease rs10801999 0.0363 -
O14958 non-pleiotropic VAR_067037 p.Asn335Lys Non-Disease rs28730712 0.0176 -
O14958 non-pleiotropic VAR_044118 p.Leu167His Disease - - Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]
O14958 non-pleiotropic VAR_055234 p.Arg33Gln Disease - - Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT2) [MIM:611938]
O14958 non-pleiotropic VAR_023692 p.Thr66Ala Non-Disease rs4074536 0.4137 -
P41180 pleiotropic VAR_003598 p.Gln681His Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058058 p.Glu191Lys Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058059 p.Pro221Gln Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003599 p.Arg795Trp Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003589 p.Glu127Ala Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058075 p.Leu727Gln Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_021019 p.Glu767Lys Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_003587 p.Arg66Cys Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_060207 p.Ile686Val Disease - - Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
P41180 pleiotropic VAR_058049 p.Gly21Arg Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058052 p.Leu125Pro Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058066 p.Gly553Arg Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058068 p.Cys562Tyr Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003588 p.Ala116Thr Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_060209 p.Ala988Gly Disease - - Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]
P41180 pleiotropic VAR_012649 p.Gly557Glu Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058060 p.Lys225Thr Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003594 p.Arg227Leu Disease rs28936684 - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
P41180 pleiotropic VAR_058051 p.Asn118Lys Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058055 p.Thr151Met Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058073 p.Gly670Glu Disease - - Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200]
P41180 pleiotropic VAR_058074 p.Gly670Arg Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_015414 p.Leu616Val Disease - - Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198]
P41180 pleiotropic VAR_058077 p.Trp742Arg Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_003585 p.Pro39Ala Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058072 p.Gly623Asp Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]
P41180 pleiotropic VAR_058047 p.Leu13Pro Disease - - Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]