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 99 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P14868 | non-pleiotropic | VAR_070045 | p.Arg494Gly | Disease | - | - | Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] |
Q6PI48 | non-pleiotropic | VAR_037016 | p.Cys152Phe | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
Q6PI48 | non-pleiotropic | VAR_037023 | p.Leu626Gln | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
Q6PI48 | non-pleiotropic | VAR_037018 | p.Gln184Lys | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
Q6PI48 | non-pleiotropic | VAR_037020 | p.Arg263Gln | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
Q6PI48 | non-pleiotropic | VAR_037017 | p.Arg179His | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
Q6PI48 | non-pleiotropic | VAR_037025 | p.Tyr629Cys | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
Q6PI48 | non-pleiotropic | VAR_037021 | p.Asp560Val | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
Q6PI48 | non-pleiotropic | VAR_037015 | p.Ser45Gly | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
Q6PI48 | non-pleiotropic | VAR_027612 | p.Leu10Val | Non-Disease | rs4427454 | - | - |
Q6PI48 | non-pleiotropic | VAR_034525 | p.Lys196Arg | Non-Disease | rs35515638 | 0.0188 | - |
Q6PI48 | non-pleiotropic | VAR_037019 | p.Gln248Lys | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
Q6PI48 | non-pleiotropic | VAR_037024 | p.Leu626Val | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
Q6PI48 | non-pleiotropic | VAR_037022 | p.Leu613Phe | Disease | - | - | Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] |
P09172 | non-pleiotropic | VAR_014706 | p.Glu181Gln | Non-Disease | rs5319 | - | - |
P09172 | non-pleiotropic | VAR_022758 | p.Val101Met | Disease | - | - | Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] |
P09172 | non-pleiotropic | VAR_014709 | p.Asp290Asn | Non-Disease | rs5324 | 0.0248 | - |
P09172 | non-pleiotropic | VAR_022760 | p.Asp345Asn | Disease | - | - | Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] |
P09172 | non-pleiotropic | VAR_013947 | p.Ala211Thr | Non-Disease | rs5320 | 0.1056 | - |
P09172 | non-pleiotropic | VAR_014707 | p.Lys239Asn | Non-Disease | rs5321 | 0.0 | - |
P09172 | non-pleiotropic | VAR_022759 | p.Asp114Glu | Disease | - | - | Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360] |
P09172 | non-pleiotropic | VAR_048838 | p.Gly12Ser | Non-Disease | rs5318 | - | - |
P09172 | non-pleiotropic | VAR_014708 | p.Glu250Gln | Non-Disease | rs5323 | - | - |
P09172 | non-pleiotropic | VAR_013948 | p.Arg549Cys | Non-Disease | rs6271 | 0.0321 | - |
P09172 | non-pleiotropic | VAR_002196 | p.Ala318Ser | Non-Disease | rs4531 | 0.0629 | - |
P09172 | non-pleiotropic | VAR_014710 | p.Leu317Pro | Non-Disease | rs5325 | - | - |
P11182 | non-pleiotropic | VAR_015099 | p.Ile98Met | Disease | - | - | Maple syrup urine disease 2 (MSUD2) [MIM:248600] |
P11182 | non-pleiotropic | VAR_004978 | p.Phe276Cys | Disease | - | - | Maple syrup urine disease 2 (MSUD2) [MIM:248600] |
P11182 | non-pleiotropic | VAR_015100 | p.Gly384Ser | Disease | rs12021720 | 0.1082 | Maple syrup urine disease 2 (MSUD2) [MIM:248600] |
Q96JQ0 | non-pleiotropic | VAR_070928 | p.Asn2370Ile | Disease | - | - | Van Maldergem syndrome 1 (VMLDS1) [MIM:601390] |
Q96JQ0 | non-pleiotropic | VAR_048577 | p.Thr1949Met | Non-Disease | rs4758443 | 0.3338 | - |
Q96JQ0 | non-pleiotropic | VAR_061074 | p.Leu2172Gln | Non-Disease | rs56920123 | 0.0271 | - |
Q96JQ0 | non-pleiotropic | VAR_048578 | p.Val2331Ile | Non-Disease | rs7924553 | 0.0312 | - |
Q96JQ0 | non-pleiotropic | VAR_048579 | p.Arg2359Cys | Non-Disease | rs2659875 | 0.0129 | - |
Q92466 | non-pleiotropic | VAR_016338 | p.Ala293Thr | Non-Disease | rs4647751 | - | - |
Q92466 | non-pleiotropic | VAR_016337 | p.Met215Thr | Non-Disease | rs4647750 | 0.0009 | - |
Q92466 | non-pleiotropic | VAR_010142 | p.Arg273His | Disease | - | - | Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] |
Q92466 | non-pleiotropic | VAR_010141 | p.Lys244Glu | Disease | - | - | Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] |
P20711 | non-pleiotropic | VAR_046138 | p.Ala91Val | Disease | - | - | Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] |
P20711 | non-pleiotropic | VAR_019309 | p.Gly102Ser | Disease | - | - | Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] |
P20711 | non-pleiotropic | VAR_014790 | p.Met217Val | Non-Disease | rs6263 | 0.0399 | - |
P20711 | non-pleiotropic | VAR_014788 | p.Met17Val | Non-Disease | rs6264 | 0.0078 | - |
P20711 | non-pleiotropic | VAR_046137 | p.Pro47His | Disease | - | - | Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] |
P20711 | non-pleiotropic | VAR_046140 | p.Ser250Phe | Disease | - | - | Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] |
P20711 | non-pleiotropic | VAR_046139 | p.Ser147Arg | Disease | - | - | Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] |
P20711 | non-pleiotropic | VAR_019217 | p.Arg462Gln | Non-Disease | rs11575542 | 0.0459 | - |
P20711 | non-pleiotropic | VAR_046142 | p.Phe309Leu | Disease | - | - | Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] |
P20711 | non-pleiotropic | VAR_046144 | p.Leu408Ile | Disease | - | - | Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] |
P20711 | non-pleiotropic | VAR_046141 | p.Ala275Thr | Disease | - | - | Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] |
P20711 | non-pleiotropic | VAR_046143 | p.Arg347Gln | Disease | - | - | Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643] |