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 189 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P38935 | non-pleiotropic | VAR_022330 | p.Glu514Lys | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022337 | p.Arg603His | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_058498 | p.Gln196Arg | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_058502 | p.His445Pro | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_058503 | p.Leu472Pro | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022325 | p.Glu334Lys | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022324 | p.Cys241Arg | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022333 | p.Leu577Pro | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_058506 | p.Arg603Cys | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_058504 | p.Thr493Ile | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_058499 | p.Pro216Leu | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022335 | p.Asn583Ile | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022336 | p.Gly586Cys | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022329 | p.Leu426Pro | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_021899 | p.Arg694Trp | Non-Disease | rs2236654 | 0.1671 | - |
P38935 | non-pleiotropic | VAR_058501 | p.Trp386Arg | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022339 | p.Thr879Lys | Disease | rs17612126 | 0.1971 | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_055226 | p.Pro557Ala | Non-Disease | rs7122089 | 0.0009 | - |
P38935 | non-pleiotropic | VAR_022340 | p.Asp974Glu | Disease | rs147674615 | 0.0004 | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_058500 | p.Leu251Pro | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022321 | p.Leu192Pro | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022331 | p.Asp565Asn | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_024243 | p.Ile275Val | Non-Disease | rs10896380 | 0.157 | - |
P38935 | non-pleiotropic | VAR_022322 | p.His213Arg | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022327 | p.Leu364Pro | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022323 | p.Thr221Ala | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_024242 | p.Leu201Ser | Non-Disease | rs560096 | 0.2975 | - |
P38935 | non-pleiotropic | VAR_058497 | p.Leu17Pro | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022328 | p.Glu382Lys | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_022334 | p.Val580Ile | Disease | - | - | Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320] |
P38935 | non-pleiotropic | VAR_020147 | p.Thr671Ala | Non-Disease | rs622082 | 0.2222 | - |
P01834 | non-pleiotropic | VAR_066403 | p.Trp40Arg | Disease | - | - | Immunoglobulin kappa light chain deficiency (IGKCD) [MIM:614102] |
P15814 | non-pleiotropic | VAR_059392 | p.Arg189His | Non-Disease | rs8138122 | 0.0399 | - |
P15814 | non-pleiotropic | VAR_034869 | p.Pro142Leu | Disease | rs1064422 | 0.0004 | Agammaglobulinemia 2, autosomal recessive (AGM2) [MIM:613500] |
P15814 | non-pleiotropic | VAR_049878 | p.Pro120Leu | Non-Disease | rs1064425 | - | - |
Q8N6C5 | non-pleiotropic | VAR_054960 | p.Asn381His | Non-Disease | rs6637826 | 0.0012 | - |
Q8N6C5 | non-pleiotropic | VAR_069270 | p.Ser858Phe | Disease | - | - | Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888] |
Q8N6C5 | non-pleiotropic | VAR_069269 | p.Ser765Asn | Disease | - | - | Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888] |
Q8N6C5 | non-pleiotropic | VAR_069271 | p.Cys942Arg | Disease | - | - | Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888] |
Q14623 | pleiotropic | VAR_015986 | p.Val190Ala | Disease | - | - | Acrocapitofemoral dysplasia (ACFD) [MIM:607778] |
Q14623 | pleiotropic | VAR_015983 | p.Asp100Glu | Disease | - | - | Brachydactyly A1 (BDA1) [MIM:112500] |
Q14623 | pleiotropic | VAR_015981 | p.Pro46Leu | Disease | - | - | Acrocapitofemoral dysplasia (ACFD) [MIM:607778] |
Q14623 | pleiotropic | VAR_015982 | p.Glu95Lys | Disease | - | - | Brachydactyly A1 (BDA1) [MIM:112500] |
Q14623 | pleiotropic | VAR_015985 | p.Glu131Lys | Disease | - | - | Brachydactyly A1 (BDA1) [MIM:112500] |
Q14623 | pleiotropic | VAR_015984 | p.Asp100Asn | Disease | rs28936377 | - | Brachydactyly A1 (BDA1) [MIM:112500] |
O95163 | non-pleiotropic | VAR_011327 | p.Arg696Pro | Disease | - | - | Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900] |
O95163 | non-pleiotropic | VAR_047484 | p.Lys952Ile | Non-Disease | rs2230798 | 0.0179 | - |
O95163 | non-pleiotropic | VAR_047480 | p.Gly765Glu | Non-Disease | rs2230792 | 0.2778 | - |
O95163 | non-pleiotropic | VAR_047483 | p.Thr848Asn | Non-Disease | rs10979599 | 0.0014 | - |
O95163 | non-pleiotropic | VAR_047482 | p.Ile830Met | Non-Disease | rs2230794 | 0.0799 | - |