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 203 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P56696 | non-pleiotropic | VAR_058971 | p.His455Gln | Non-Disease | rs34287852 | 0.112 | - |
P56696 | non-pleiotropic | VAR_010937 | p.Leu281Ser | Disease | - | - | Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] |
P56696 | non-pleiotropic | VAR_008728 | p.Gly321Ser | Disease | rs28939710 | - | Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] |
P56696 | non-pleiotropic | VAR_008727 | p.Gly285Cys | Disease | - | - | Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] |
P56696 | non-pleiotropic | VAR_008726 | p.Trp276Ser | Disease | - | - | Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] |
P56696 | non-pleiotropic | VAR_065779 | p.Gly287Arg | Disease | - | - | Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] |
P56696 | non-pleiotropic | VAR_010936 | p.Leu274His | Disease | - | - | Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] |
Q8TDN2 | non-pleiotropic | VAR_027638 | p.Leu533Val | Non-Disease | rs12352254 | 0.1286 | - |
Q8TDN2 | non-pleiotropic | VAR_027634 | p.Ser256Trp | Disease | - | - | Cone dystrophy retinal 3B (RCD3B) [MIM:610356] |
Q8TDN2 | non-pleiotropic | VAR_027637 | p.Gly459Asp | Disease | - | - | Cone dystrophy retinal 3B (RCD3B) [MIM:610356] |
Q8TDN2 | non-pleiotropic | VAR_027633 | p.Trp188Cys | Disease | - | - | Cone dystrophy retinal 3B (RCD3B) [MIM:610356] |
Q8TDN2 | non-pleiotropic | VAR_027632 | p.Leu126Gln | Disease | - | - | Cone dystrophy retinal 3B (RCD3B) [MIM:610356] |
Q8TDN2 | non-pleiotropic | VAR_027635 | p.Ala259Val | Disease | - | - | Cone dystrophy retinal 3B (RCD3B) [MIM:610356] |
Q719H9 | non-pleiotropic | VAR_069972 | p.Pro31Leu | Disease | - | - | Scalp-ear-nipple syndrome (SENS) [MIM:181270] |
Q719H9 | non-pleiotropic | VAR_069976 | p.His33Gln | Disease | - | - | Scalp-ear-nipple syndrome (SENS) [MIM:181270] |
Q719H9 | non-pleiotropic | VAR_069974 | p.Pro31Ser | Disease | - | - | Scalp-ear-nipple syndrome (SENS) [MIM:181270] |
Q719H9 | non-pleiotropic | VAR_069977 | p.Gly62Asp | Disease | - | - | Scalp-ear-nipple syndrome (SENS) [MIM:181270] |
Q719H9 | non-pleiotropic | VAR_069971 | p.Ala30Glu | Disease | - | - | Scalp-ear-nipple syndrome (SENS) [MIM:181270] |
Q719H9 | non-pleiotropic | VAR_069978 | p.His74Pro | Disease | - | - | Scalp-ear-nipple syndrome (SENS) [MIM:181270] |
Q719H9 | non-pleiotropic | VAR_069973 | p.Pro31Arg | Disease | - | - | Scalp-ear-nipple syndrome (SENS) [MIM:181270] |
Q719H9 | non-pleiotropic | VAR_049722 | p.Leu107Trp | Non-Disease | rs491684 | - | - |
Q719H9 | non-pleiotropic | VAR_069975 | p.His33Pro | Disease | - | - | Scalp-ear-nipple syndrome (SENS) [MIM:181270] |
Q96MP8 | non-pleiotropic | VAR_068777 | p.Leu108Met | Disease | - | - | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726] |
Q96MP8 | non-pleiotropic | VAR_068780 | p.Asn273Ile | Disease | - | - | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726] |
Q96MP8 | non-pleiotropic | VAR_068776 | p.Arg94Trp | Disease | - | - | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726] |
Q96MP8 | non-pleiotropic | VAR_068779 | p.Arg184Cys | Disease | - | - | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726] |
P41229 | non-pleiotropic | VAR_032988 | p.Phe642Leu | Disease | - | - | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] |
P41229 | non-pleiotropic | VAR_032986 | p.Asp87Gly | Disease | - | - | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] |
P41229 | non-pleiotropic | VAR_032989 | p.Arg750Trp | Disease | - | - | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] |
P41229 | non-pleiotropic | VAR_032987 | p.Ser451Arg | Disease | - | - | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] |
P41229 | non-pleiotropic | VAR_022732 | p.Glu698Lys | Disease | - | - | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] |
P41229 | non-pleiotropic | VAR_022730 | p.Ala388Pro | Disease | - | - | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] |
P41229 | non-pleiotropic | VAR_022733 | p.Leu731Phe | Disease | - | - | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] |
P41229 | non-pleiotropic | VAR_022731 | p.Asp402Tyr | Disease | - | - | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] |
P41229 | non-pleiotropic | VAR_032990 | p.Tyr751Cys | Disease | - | - | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534] |
O60938 | non-pleiotropic | VAR_012753 | p.Thr215Lys | Disease | - | - | The autosomal recessive cornea plana 2 (CNA2) [MIM:217300] |
O60938 | non-pleiotropic | VAR_013564 | p.Val235Gly | Non-Disease | rs737111 | - | - |
O60938 | non-pleiotropic | VAR_012754 | p.Asn247Ser | Disease | - | - | The autosomal recessive cornea plana 2 (CNA2) [MIM:217300] |
P50053 | non-pleiotropic | VAR_006073 | p.Ala43Thr | Disease | - | - | Fructosuria (FRUCT) [MIM:229800] |
P50053 | non-pleiotropic | VAR_006072 | p.Gly40Arg | Disease | - | - | Fructosuria (FRUCT) [MIM:229800] |
P50053 | non-pleiotropic | VAR_006075 | p.Arg159Gly | Non-Disease | - | - | - |
P50053 | non-pleiotropic | VAR_006074 | p.Val49Ile | Non-Disease | rs2304681 | 0.3402 | - |
Q12768 | non-pleiotropic | VAR_031956 | p.Leu619Phe | Disease | - | - | Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] |
Q12768 | non-pleiotropic | VAR_031957 | p.Val626Phe | Disease | - | - | Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] |
Q12768 | non-pleiotropic | VAR_031955 | p.Asn471Asp | Disease | - | - | Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] |
Q12768 | non-pleiotropic | VAR_069985 | p.Gly696Ala | Disease | - | - | Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] |
Q12768 | non-pleiotropic | VAR_069984 | p.Ile226Thr | Disease | - | - | Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563] |
P52732 | non-pleiotropic | VAR_067830 | p.Arg234Cys | Disease | - | - | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950] |
P52732 | non-pleiotropic | VAR_067829 | p.Phe144Leu | Disease | - | - | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950] |
P52732 | non-pleiotropic | VAR_067831 | p.Ser235Cys | Disease | - | - | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950] |