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 180 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q93099 | non-pleiotropic | VAR_005272 | p.Glu42Ala | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005283 | p.Pro230Ser | Disease | rs28942100 | 0.0002 | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005286 | p.Val300Gly | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005280 | p.Ile216Thr | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_009619 | p.Glu168Lys | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_009618 | p.Leu25Pro | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005282 | p.Phe227Ser | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005277 | p.Asp153Gly | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005284 | p.Pro230Thr | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005273 | p.Trp60Gly | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005281 | p.Arg225His | Disease | - | - | Alkaptonuria (AKU) [MIM:203500] |
Q93099 | non-pleiotropic | VAR_005278 | p.Gly161Arg | Disease | rs28941783 | - | Alkaptonuria (AKU) [MIM:203500] |
Q68CP4 | non-pleiotropic | VAR_030084 | p.Arg372Cys | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_030087 | p.Met510Lys | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_030086 | p.Glu499Lys | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063986 | p.Ile280Arg | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_030083 | p.Pro311Leu | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063983 | p.Cys104Phe | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063993 | p.Ala517Glu | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063997 | p.Ala643Thr | Non-Disease | rs112029032 | 0.0014 | - |
Q68CP4 | non-pleiotropic | VAR_030090 | p.Pro599Leu | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063984 | p.Leu165Pro | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063988 | p.Asn301Lys | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063990 | p.Trp431Cys | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_030089 | p.Asp590Val | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063989 | p.Arg372His | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063996 | p.Ser567Cys | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063992 | p.Gly514Glu | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_030088 | p.Ser569Leu | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_030085 | p.Gly452Ser | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063995 | p.Lys551Gln | Non-Disease | rs73569592 | 0.028 | - |
Q68CP4 | non-pleiotropic | VAR_063991 | p.Val509Leu | Non-Disease | - | - | - |
Q68CP4 | non-pleiotropic | VAR_063994 | p.Ser546Phe | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063987 | p.Gly290Arg | Disease | - | - | Mucopolysaccharidosis 3C (MPS3C) [MIM:252930] |
Q68CP4 | non-pleiotropic | VAR_063985 | p.Pro265Gln | Non-Disease | - | - | - |
Q6NVY1 | non-pleiotropic | VAR_031870 | p.Tyr122Cys | Disease | - | - | HIBCH deficiency (HIBCHD) [MIM:250620] |
Q6NVY1 | non-pleiotropic | VAR_031869 | p.Thr46Ala | Non-Disease | rs1058180 | 0.3324 | - |
P49773 | non-pleiotropic | VAR_069215 | p.Gly89Val | Disease | - | - | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] |
P49773 | non-pleiotropic | VAR_069214 | p.Cys84Arg | Disease | - | - | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] |
P49773 | non-pleiotropic | VAR_069213 | p.His51Arg | Disease | - | - | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] |
P49773 | non-pleiotropic | VAR_069217 | p.His112Asn | Disease | - | - | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] |
P49773 | non-pleiotropic | VAR_069212 | p.Arg37Pro | Disease | rs149782619 | 0.0002 | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] |
P49773 | non-pleiotropic | VAR_069216 | p.Gly93Asp | Disease | - | - | Neuromyotonia and axonal neuropathy, autosomal recessive (NMAN) [MIM:137200] |
P50747 | non-pleiotropic | VAR_021218 | p.Leu216Arg | Disease | rs28934602 | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_046517 | p.Asp715Gly | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_046513 | p.Val547Gly | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_021220 | p.Gly582Arg | Disease | rs376899782 | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_013009 | p.Arg508Trp | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_046516 | p.Asp634Tyr | Disease | - | - | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |
P50747 | non-pleiotropic | VAR_046515 | p.Asp634Asn | Disease | rs149399432 | 0.0002 | Holocarboxylase synthetase deficiency (HLCS deficiency) [MIM:253270] |