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 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]