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 171 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P16278 pleiotropic VAR_062355 p.Leu264Ser Disease - - GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278 pleiotropic VAR_013550 p.Gln408Pro Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_062369 p.Gly494Ser Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_037946 p.Arg590Cys Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_026131 p.Asp151Tyr Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062343 p.Tyr83Cys Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_037937 p.Gly134Val Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P23378 non-pleiotropic VAR_016851 p.Arg515Ser Disease rs121964976 0.0174 Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378 non-pleiotropic VAR_004979 p.Ser564Ile Disease - - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P23378 non-pleiotropic VAR_016849 p.Ala283Pro Disease - - Non-ketotic hyperglycinemia (NKH) [MIM:605899]
P10070 non-pleiotropic VAR_032976 p.Pro932Ser Disease - - Holoprosencephaly 9 (HPE9) [MIM:610829]
P10070 non-pleiotropic VAR_047306 p.Ala1156Ser Non-Disease rs3738880 0.4399 -
P10070 non-pleiotropic VAR_032975 p.Arg479Gly Disease - - Holoprosencephaly 9 (HPE9) [MIM:610829]
P10070 non-pleiotropic VAR_032977 p.Met1444Ile Disease rs146467786 0.007 Holoprosencephaly 9 (HPE9) [MIM:610829]
P10070 non-pleiotropic VAR_047307 p.Asp1306Asn Non-Disease rs12711538 0.4068 -
P10070 non-pleiotropic VAR_032978 p.Pro1554Leu Disease - - Holoprosencephaly 9 (HPE9) [MIM:610829]
P10070 non-pleiotropic VAR_047304 p.Ser579Ile Non-Disease rs12618388 - -
P10070 non-pleiotropic VAR_047303 p.Asp449His Non-Disease rs13427953 - -
P10070 non-pleiotropic VAR_047305 p.Pro625Ser Non-Disease rs3099537 - -
P10071 pleiotropic VAR_028278 p.Pro998Leu Non-Disease rs929387 0.4206 -
P10071 pleiotropic VAR_021482 p.Ala934Pro Disease rs28933372 - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P10071 pleiotropic VAR_010057 p.Arg1537Cys Non-Disease rs35364414 0.0193 -
P10071 pleiotropic VAR_021481 p.Arg625Trp Disease - - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P10071 pleiotropic VAR_010055 p.Pro707Ser Disease - - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P10071 pleiotropic VAR_009876 p.Gly727Arg Disease rs121917710 0.0026 Polydactyly, postaxial A1 (PAPA1) [MIM:174200]
Polydactyly, postaxial B (PAPB) [MIM:174200]
P10071 pleiotropic VAR_010054 p.Cys520Tyr Disease - - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P10071 pleiotropic VAR_034865 p.Gly1336Glu Non-Disease rs35280470 0.0188 -
P10071 pleiotropic VAR_010053 p.Cys515Gly Disease - - Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P10071 pleiotropic VAR_028276 p.Thr183Ala Non-Disease rs846266 0.3747 -
P10071 pleiotropic VAR_010052 p.Asp440Glu Non-Disease - - -
P10071 pleiotropic VAR_010056 p.Ile808Met Disease rs62622373 0.0006 Greig cephalo-poly-syndactyly syndrome (GCPS) [MIM:175700]
P23415 non-pleiotropic VAR_010114 p.Arg428His Disease - - Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415 non-pleiotropic VAR_010113 p.Arg280His Disease - - Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415 non-pleiotropic VAR_000296 p.Ile272Asn Disease - - Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415 non-pleiotropic VAR_000299 p.Arg299Gln Disease - - Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415 non-pleiotropic VAR_000301 p.Tyr307Cys Disease - - Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415 non-pleiotropic VAR_000300 p.Lys304Glu Disease - - Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415 non-pleiotropic VAR_000297 p.Gln294His Disease - - Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415 non-pleiotropic VAR_000298 p.Arg299Leu Disease - - Hyperekplexia 1 (HKPX1) [MIM:149400]
P23415 non-pleiotropic VAR_010112 p.Pro278Thr Disease - - Hyperekplexia 1 (HKPX1) [MIM:149400]
P48167 non-pleiotropic VAR_068246 p.Met199Arg Disease - - Hyperekplexia 2 (HKPX2) [MIM:614619]
P48167 non-pleiotropic VAR_035070 p.Gly251Asp Disease - - Hyperekplexia 2 (HKPX2) [MIM:614619]
P00367 non-pleiotropic VAR_016760 p.Ser270Cys Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_016762 p.Arg318Thr Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_009271 p.Glu349Ala Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_008666 p.Ser498Leu Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_008670 p.His507Tyr Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_008667 p.Gly499Asp Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_016764 p.Arg322Cys Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]
P00367 non-pleiotropic VAR_009270 p.Arg318Lys Disease - - Familial hyperinsulinemic hypoglycemia 6 (HHF6) [MIM:606762]