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 15 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P55265 | pleiotropic | VAR_069539 | p.Lys999Asn | Disease | - | - | Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] |
P55265 | pleiotropic | VAR_069538 | p.Arg892His | Disease | - | - | Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] |
P55265 | pleiotropic | VAR_024407 | p.Tyr587Cys | Non-Disease | rs17843865 | 0.0119 | - |
P55265 | pleiotropic | VAR_017605 | p.Phe1165Ser | Disease | rs28936681 | - | Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] |
P55265 | pleiotropic | VAR_069541 | p.Tyr1112Phe | Disease | - | - | Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] |
P55265 | pleiotropic | VAR_069540 | p.Gly1007Arg | Disease | - | - | Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] |
P55265 | pleiotropic | VAR_069535 | p.Pro193Ala | Disease | - | - | Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] |
P55265 | pleiotropic | VAR_017240 | p.Lys384Arg | Non-Disease | rs2229857 | 0.3797 | - |
P55265 | pleiotropic | VAR_069536 | p.Ala870Thr | Disease | - | - | Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] |
P55265 | pleiotropic | VAR_017604 | p.Leu923Pro | Disease | rs28936680 | - | Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] |
P55265 | pleiotropic | VAR_069537 | p.Ile872Thr | Disease | - | - | Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] |
P55265 | pleiotropic | VAR_026669 | p.Arg1155Trp | Disease | - | - | Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] |
P55265 | pleiotropic | VAR_048725 | p.Arg100Gly | Non-Disease | rs1466731 | 0.0023 | - |
P55265 | pleiotropic | VAR_069542 | p.Asp1113His | Disease | - | - | Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] |
P55265 | pleiotropic | VAR_021729 | p.Cys966Phe | Disease | - | - | Dyschromatosis symmetrica hereditaria (DSH) [MIM:127400] |
Q96EY9 | non-pleiotropic | VAR_069778 | p.Val128Met | Disease | - | - | Mental retardation, autosomal recessive 36 (MRT36) [MIM:615286] |
Q8NI60 | non-pleiotropic | VAR_044404 | p.Gly272Val | Disease | - | - | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] |
Q8NI60 | non-pleiotropic | VAR_044407 | p.Glu551Lys | Disease | - | - | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] |
Q8NI60 | non-pleiotropic | VAR_044406 | p.Gly549Ser | Disease | - | - | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] |
Q8NI60 | non-pleiotropic | VAR_020319 | p.His85Gln | Non-Disease | rs2297411 | 0.0395 | - |
Q8NI60 | non-pleiotropic | VAR_044402 | p.Arg213Trp | Disease | - | - | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] |
Q8NI60 | non-pleiotropic | VAR_045576 | p.Ile341Thr | Non-Disease | rs55798516 | - | - |
Q8NI60 | non-pleiotropic | VAR_044405 | p.Tyr514Cys | Disease | - | - | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] |
Q8NI60 | non-pleiotropic | VAR_044403 | p.Gly272Asp | Disease | - | - | Coenzyme Q10 deficiency, primary, 4 (COQ10D4) [MIM:612016] |
Q96D53 | non-pleiotropic | VAR_041423 | p.Thr462Met | Non-Disease | rs56083906 | - | - |
Q96D53 | non-pleiotropic | VAR_041422 | p.Thr352Arg | Non-Disease | rs36012476 | 0.0239 | - |
Q96D53 | non-pleiotropic | VAR_070553 | p.Asp286Gly | Disease | - | - | Nephrotic syndrome 9 (NPHS9) [MIM:615573] |
Q96D53 | non-pleiotropic | VAR_041421 | p.Thr318Met | Non-Disease | rs55899516 | 0.0009 | - |
Q96D53 | non-pleiotropic | VAR_070552 | p.Arg178Trp | Disease | - | - | Nephrotic syndrome 9 (NPHS9) [MIM:615573] |
Q96D53 | non-pleiotropic | VAR_041420 | p.Arg78Cys | Non-Disease | rs11538384 | 0.0165 | - |
Q96D53 | non-pleiotropic | VAR_070556 | p.Arg477Gln | Disease | - | - | Nephrotic syndrome 9 (NPHS9) [MIM:615573] |
Q96D53 | non-pleiotropic | VAR_029995 | p.His174Arg | Non-Disease | rs3865452 | 0.4619 | - |
Q96D53 | non-pleiotropic | VAR_070555 | p.Arg343Trp | Disease | - | - | Nephrotic syndrome 9 (NPHS9) [MIM:615573] |
Q96D53 | non-pleiotropic | VAR_070554 | p.Arg320Trp | Disease | - | - | Nephrotic syndrome 9 (NPHS9) [MIM:615573] |
O95622 | non-pleiotropic | VAR_068821 | p.Ala726Thr | Disease | - | - | Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703] |
Q15848 | non-pleiotropic | VAR_013275 | p.Val117Met | Non-Disease | - | - | - |
Q15848 | non-pleiotropic | VAR_027395 | p.Gly90Ser | Non-Disease | rs62625753 | 0.0028 | - |
Q15848 | non-pleiotropic | VAR_027396 | p.Tyr111His | Non-Disease | rs17366743 | 0.017 | - |
Q15848 | non-pleiotropic | VAR_013274 | p.Arg112Cys | Disease | - | - | Adiponectin deficiency (ADPND) [MIM:612556] |
Q15848 | non-pleiotropic | VAR_013277 | p.Arg221Ser | Non-Disease | rs138773406 | 0.0018 | - |
Q15848 | non-pleiotropic | VAR_013276 | p.Ile164Thr | Non-Disease | rs185847354 | 0.0005 | - |
Q15848 | non-pleiotropic | VAR_013278 | p.His241Pro | Non-Disease | rs141205818 | 0.0018 | - |
P55263 | non-pleiotropic | VAR_066642 | p.Ala318Glu | Disease | - | - | Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] |
P55263 | non-pleiotropic | VAR_066641 | p.Asp235Ala | Disease | - | - | Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] |
P55263 | non-pleiotropic | VAR_066640 | p.Gly30Glu | Disease | - | - | Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300] |
P30566 | non-pleiotropic | VAR_037883 | p.Ser31Asn | Non-Disease | rs5757921 | - | - |
P30566 | non-pleiotropic | VAR_017083 | p.Leu311Val | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_017084 | p.Pro318Leu | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_016930 | p.Ala2Val | Disease | rs143083947 | 0.0002 | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |
P30566 | non-pleiotropic | VAR_007976 | p.Arg303Cys | Disease | - | - | Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050] |