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 169 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9NTQ9 non-pleiotropic VAR_015089 p.Arg124Gln Non-Disease rs140996335 0.0005 -
Q9NTQ9 non-pleiotropic VAR_015088 p.Arg103Cys Non-Disease rs9426009 0.0161 -
Q9NTQ9 non-pleiotropic VAR_010206 p.Phe137Leu Disease - - Erythrokeratodermia variabilis (EKV) [MIM:133200]
Q9NTQ9 non-pleiotropic VAR_015092 p.Glu204Ala Non-Disease rs3738346 0.101 -
O95452 pleiotropic VAR_048825 p.Asn159Ser Non-Disease rs35277762 0.0022 -
O95452 pleiotropic VAR_022424 p.Ser139Gly Non-Disease - - -
O95452 pleiotropic VAR_022425 p.Ser199Thr Non-Disease rs111033338 0.0028 -
O95452 pleiotropic VAR_015697 p.Ala88Val Disease rs28937872 - Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]
O95452 pleiotropic VAR_015696 p.Gly11Arg Disease - - Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]
O95452 pleiotropic VAR_008711 p.Thr5Met Disease - - Deafness, autosomal dominant, 3B (DFNA3B) [MIM:612643]
O95452 pleiotropic VAR_016838 p.Val37Glu Disease - - Ectodermal dysplasia 2, Clouston type (ECTD2) [MIM:129500]
Q5T442 pleiotropic VAR_023756 p.Met286Thr Disease - - Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]
Q5T442 pleiotropic VAR_063172 p.Ile36Met Disease - - Spastic paraplegia 44, autosomal recessive (SPG44) [MIM:613206]
Q5T442 pleiotropic VAR_023755 p.Tyr272Asp Disease - - Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]
Q5T442 pleiotropic VAR_063877 p.Ser48Leu Disease - - Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480]
Q5T442 pleiotropic VAR_063880 p.Arg260Cys Disease - - Lymphedema, hereditary, 1C (LMPH1C) [MIM:613480]
Q5T442 pleiotropic VAR_023754 p.Pro90Ser Disease - - Leukodystrophy, hypomyelinating, 2 (HLD2) [MIM:608804]
P32189 non-pleiotropic VAR_001374 p.Ser185Asn Non-Disease - - -
P32189 non-pleiotropic VAR_015433 p.Asn294Asp Disease - - Glycerol kinase deficiency (GKD) [MIM:307030]
P32189 non-pleiotropic VAR_068980 p.Asn79Lys Non-Disease rs17857267 - -
P32189 non-pleiotropic VAR_001377 p.Asp446Val Disease - - Glycerol kinase deficiency (GKD) [MIM:307030]
P32189 non-pleiotropic VAR_068981 p.Pro131Thr Non-Disease rs17854203 - -
P32189 non-pleiotropic VAR_001376 p.Ala382Thr Non-Disease - - -
P32189 non-pleiotropic VAR_010138 p.Trp509Arg Disease - - Glycerol kinase deficiency (GKD) [MIM:307030]
P32189 non-pleiotropic VAR_001375 p.Asn232His Non-Disease - - -
P16278 pleiotropic VAR_062342 p.Lys73Glu Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_062359 p.Tyr333His Disease - - GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278 pleiotropic VAR_013543 p.Asp214Tyr Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_013553 p.Gly494Cys Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_013546 p.Asn266Ser Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_008686 p.Glu632Gly Disease - - GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278 pleiotropic VAR_062341 p.Arg68Gln Disease - - GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278 pleiotropic VAR_062344 p.Met132Thr Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_008674 p.Tyr83His Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_003334 p.Tyr316Cys Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_038346 p.Gly272Asp Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_026130 p.Arg68Trp Disease - - GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278 pleiotropic VAR_013544 p.Val216Ala Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_062367 p.Arg442Gln Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_003330 p.Ile51Thr Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_003332 p.Arg201Cys Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
P16278 pleiotropic VAR_013554 p.Thr500Ala Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_037943 p.Asp491Tyr Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_008676 p.Arg208Cys Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_026129 p.Arg59Cys Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
P16278 pleiotropic VAR_008681 p.Ser532Gly Non-Disease - 0.045 -
P16278 pleiotropic VAR_062368 p.Tyr444Cys Disease - - Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
P16278 pleiotropic VAR_037939 p.Leu155Arg Disease - - GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_062363 p.Thr420Lys Disease - - GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
P16278 pleiotropic VAR_026132 p.Thr239Met Disease - - GM1-gangliosidosis 1 (GM1G1) [MIM:230500]