Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
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] |