Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
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 | - |