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 276 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
O95427 non-pleiotropic VAR_053573 p.Lys162Glu Non-Disease rs17069506 0.0569 -
O95427 non-pleiotropic VAR_053577 p.Phe904Cys Non-Disease rs34231046 0.002 -
O95427 non-pleiotropic VAR_053576 p.Ile470Leu Non-Disease rs3862712 0.0771 -
O95427 non-pleiotropic VAR_053575 p.Leu469Phe Non-Disease rs3862712 0.0933 -
O95427 non-pleiotropic VAR_053578 p.Phe904Leu Non-Disease rs34231046 0.0216 -
O95427 non-pleiotropic VAR_053574 p.His229Asp Non-Disease rs9320001 0.1708 -
Q8TEQ8 non-pleiotropic VAR_068809 p.Leu957Phe Disease - - Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]
Q969N2 non-pleiotropic VAR_053583 p.Ala473Thr Non-Disease rs36056071 0.0083 -
Q969N2 non-pleiotropic VAR_070448 p.Thr183Pro Disease - - Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398]
Q9NUD9 non-pleiotropic VAR_064190 p.Gln256Lys Disease - - Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
Q9NUD9 non-pleiotropic VAR_064192 p.Ala341Val Disease - - Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
Q9NUD9 non-pleiotropic VAR_064193 p.His385Pro Disease - - Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
Q9NUD9 non-pleiotropic VAR_064191 p.Ala341Glu Disease - - Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]
P42336 pleiotropic VAR_069252 p.Gly364Arg Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_069259 p.Gly1049Ser Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_026172 p.Glu453Gln Disease - - Colorectal cancer (CRC) [MIM:114500]
P42336 pleiotropic VAR_069790 p.Arg382Lys Disease - - Cowden syndrome 5 (CWS5) [MIM:615108]
P42336 pleiotropic VAR_069254 p.Cys378Tyr Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_069257 p.Gly914Arg Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_026173 p.Glu542Lys Disease - - Breast cancer (BC) [MIM:114480]
Colorectal cancer (CRC) [MIM:114500]
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918]
Keratosis, seborrheic (KERSEB) [MIM:182000]
P42336 pleiotropic VAR_026176 p.Glu545Ala Disease - - Cowden syndrome 5 (CWS5) [MIM:615108]
Hepatocellular carcinoma (HCC) [MIM:114550]
P42336 pleiotropic VAR_069789 p.Val356Ile Disease - - Cowden syndrome 5 (CWS5) [MIM:615108]
P42336 pleiotropic VAR_026178 p.Glu545Lys Disease - - Breast cancer (BC) [MIM:114480]
Colorectal cancer (CRC) [MIM:114500]
Keratosis, seborrheic (KERSEB) [MIM:182000]
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_069251 p.Glu81Lys Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_069258 p.Thr1025Ala Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_069253 p.Glu365Lys Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_026193 p.His1047Tyr Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_069256 p.Glu726Lys Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_026170 p.Ile391Met Non-Disease rs3729680 0.073 -
P42336 pleiotropic VAR_026166 p.Arg38His Disease - - Colorectal cancer (CRC) [MIM:114500]
P42336 pleiotropic VAR_026184 p.Tyr1021Cys Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_026192 p.His1047Arg Disease - - Breast cancer (BC) [MIM:114480]
Colorectal cancer (CRC) [MIM:114500]
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918]
Keratosis, seborrheic (KERSEB) [MIM:182000]
Ovarian cancer (OC) [MIM:167000]
P42336 pleiotropic VAR_069787 p.Glu135Lys Disease - - Cowden syndrome 5 (CWS5) [MIM:615108]
P42336 pleiotropic VAR_042943 p.Ser332Arg Non-Disease rs1051407 - -
P42336 pleiotropic VAR_026177 p.Glu545Gly Disease - - Keratosis, seborrheic (KERSEB) [MIM:182000]
P42336 pleiotropic VAR_026189 p.Ala1035Val Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_026171 p.Cys420Arg Disease - - Colorectal cancer (CRC) [MIM:114500]
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918]
P42336 pleiotropic VAR_026168 p.Gly106Val Disease - - Colorectal cancer (CRC) [MIM:114500]
P42336 pleiotropic VAR_026190 p.Met1043Ile Disease - - Colorectal cancer (CRC) [MIM:114500]
Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_042942 p.Ile43Val Non-Disease rs1051399 - -
P42336 pleiotropic VAR_069786 p.Gly118Asp Disease - - Cowden syndrome 5 (CWS5) [MIM:615108]
P42336 pleiotropic VAR_026167 p.Arg88Gln Disease - - Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
P42336 pleiotropic VAR_069788 p.Glu218Lys Disease - - Cowden syndrome 5 (CWS5) [MIM:615108]
O00329 non-pleiotropic VAR_070918 p.Glu1021Lys Disease - - Activated PI3K-delta syndrome (APDS) [MIM:615513]
P27986 non-pleiotropic VAR_010023 p.Met326Ile Non-Disease rs3730089 0.2181 -
P27986 non-pleiotropic VAR_070221 p.Glu489Lys Disease - - SHORT syndrome (SHORTS) [MIM:269880]
P27986 non-pleiotropic VAR_070223 p.Arg649Trp Disease - - SHORT syndrome (SHORTS) [MIM:269880]
P27986 non-pleiotropic VAR_029562 p.Glu451Lys Non-Disease rs17852841 - -
O00459 non-pleiotropic VAR_069262 p.Gly373Arg Disease - - Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH) [MIM:603387]
O00459 non-pleiotropic VAR_030679 p.Ser234Arg Non-Disease rs2241088 0.1061 -