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 172 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P00367 non-pleiotropic VAR_008669 p.Ser501Pro Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_016765 p.Arg322His Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_016763 p.Tyr319Cys Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_008668 p.Gly499Ser Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_016761 p.Arg274Cys Disease rs56275071 - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P15104 non-pleiotropic VAR_026561 p.Arg341Cys Disease - - Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
P15104 non-pleiotropic VAR_026560 p.Arg324Cys Disease - - Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
Q8IVS8 non-pleiotropic VAR_032285 p.Leu170Val Non-Disease rs35130772 0.0381 -
Q8IVS8 non-pleiotropic VAR_065909 p.Phe493Cys Disease - - D-glyceric aciduria (D-GA) [MIM:220120]
Q8IVS8 non-pleiotropic VAR_032286 p.Thr394Ile Non-Disease rs9813489 0.011 -
Q8IVS8 non-pleiotropic VAR_061205 p.Arg27Cys Non-Disease rs34502608 0.0005 -
P17900 non-pleiotropic VAR_013830 p.Ala19Thr Non-Disease rs1048719 0.0849 -
P17900 non-pleiotropic VAR_036893 p.Met69Val Non-Disease rs153478 0.185 -
P17900 non-pleiotropic VAR_006947 p.Cys138Arg Disease - - GM2-gangliosidosis AB (GM2GAB) [MIM:272750]
P17900 non-pleiotropic VAR_036892 p.Ile59Val Non-Disease rs153477 0.3618 -
P17900 non-pleiotropic VAR_011698 p.Arg169Pro Disease - - GM2-gangliosidosis AB (GM2GAB) [MIM:272750]
Q96IJ6 non-pleiotropic VAR_070204 p.Thr334Met Disease - - Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
Q96IJ6 non-pleiotropic VAR_042435 p.Val156Ala Non-Disease rs13396066 - -
Q96IJ6 non-pleiotropic VAR_042434 p.Ser21Phe Non-Disease rs34218609 - -
Q96IJ6 non-pleiotropic VAR_070203 p.Gly182Asp Disease - - Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
Q96IJ6 non-pleiotropic VAR_070207 p.Asn401Thr Disease - - Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
Q96IJ6 non-pleiotropic VAR_070206 p.Arg390Pro Disease - - Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
Q96IJ6 non-pleiotropic VAR_070205 p.Thr334Pro Disease - - Alacrima, achalasia, and mental retardation syndrome (AAMR) [MIM:615510]
P29992 pleiotropic VAR_070170 p.Phe341Leu Disease - - Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]
P29992 pleiotropic VAR_070169 p.Ser211Trp Disease - - Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]
P29992 pleiotropic VAR_070167 p.Arg181Gln Disease - - Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]
P29992 pleiotropic VAR_070166 p.Leu135Gln Disease - - Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]
P29992 pleiotropic VAR_070165 p.Arg60Cys Disease - - Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]
P08754 non-pleiotropic VAR_068558 p.Gly40Arg Disease - - Auriculocondylar syndrome 1 (ARCND1) [MIM:602483]
P38405 non-pleiotropic VAR_069332 p.Glu155Lys Disease - - Dystonia 25 (DYT25) [MIM:615073]
P38405 non-pleiotropic VAR_069329 p.Val16Phe Non-Disease - - -
P38405 non-pleiotropic VAR_069331 p.Val137Met Disease - - Dystonia 25 (DYT25) [MIM:615073]
P09471 non-pleiotropic VAR_070864 p.Asp174Gly Disease - - Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]
P09471 non-pleiotropic VAR_070867 p.Ile279Asn Disease - - Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]
P09471 non-pleiotropic VAR_070866 p.Gly203Arg Disease - - Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473]
P63092 pleiotropic VAR_017848 p.Arg231His Disease - - Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092 pleiotropic VAR_017844 p.Arg201Gly Disease - - McCune-Albright syndrome (MAS) [MIM:174800]
P63092 pleiotropic VAR_031877 p.Glu259Val Disease - - Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092 pleiotropic VAR_031880 p.Trp281Arg Disease - - Progressive osseous heteroplasia (POH) [MIM:166350]
P63092 pleiotropic VAR_003442 p.Arg201Cys Disease rs11554273 - McCune-Albright syndrome (MAS) [MIM:174800]
P63092 pleiotropic VAR_017843 p.Pro115Leu Disease - - Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092 pleiotropic VAR_017846 p.Arg201Ser Disease - - ACTH-independent macronodular adrenal hyperplasia (AIMAH) [MIM:219080]
P63092 pleiotropic VAR_017850 p.Ala366Ser Disease - - Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092 pleiotropic VAR_015388 p.Arg258Trp Disease - - Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092 pleiotropic VAR_066388 p.Glu392Lys Disease - - Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]
P63092 pleiotropic VAR_049358 p.Arg380Leu Non-Disease rs8986 - -
P63092 pleiotropic VAR_031879 p.Arg280Lys Disease - - Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]
P63092 pleiotropic VAR_066387 p.Leu388Arg Disease - - Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462]
P63092 pleiotropic VAR_031876 p.Phe246Ser Disease - - Albright hereditary osteodystrophy (AHO) [MIM:103580]
P63092 pleiotropic VAR_031874 p.Val159Met Disease - - Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580]