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 165 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q06210 | non-pleiotropic | VAR_065350 | p.Arg514Trp | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065344 | p.Val199Phe | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065346 | p.Arg403His | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065345 | p.Asp366Tyr | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065343 | p.Ile121Thr | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065348 | p.Met509Thr | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065341 | p.Asp43Val | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065349 | p.Met510Thr | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065340 | p.Thr15Met | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065339 | p.Thr15Ala | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q06210 | non-pleiotropic | VAR_065351 | p.Arg530Trp | Disease | - | - | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) [MIM:610542] |
Q02643 | non-pleiotropic | VAR_015798 | p.Ala222Glu | Disease | - | - | Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
Q02643 | non-pleiotropic | VAR_015800 | p.Lys329Glu | Disease | - | - | Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
Q02643 | non-pleiotropic | VAR_033963 | p.Glu121Asp | Non-Disease | rs4988498 | 0.0684 | - |
Q02643 | non-pleiotropic | VAR_015799 | p.Phe242Cys | Disease | - | - | Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
Q02643 | non-pleiotropic | VAR_033962 | p.Ala57Thr | Non-Disease | rs4988496 | 0.1162 | - |
Q02643 | non-pleiotropic | VAR_015796 | p.Leu144His | Disease | rs121918118 | 0.0002 | Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
Q02643 | non-pleiotropic | VAR_033964 | p.Val225Ile | Non-Disease | rs28371560 | 0.0142 | - |
Q02643 | non-pleiotropic | VAR_015797 | p.Ala176Val | Disease | - | - | Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] |
Q02643 | non-pleiotropic | VAR_033965 | p.Met422Thr | Non-Disease | rs2228078 | 0.028 | - |
Q92847 | non-pleiotropic | VAR_032705 | p.Ala204Glu | Disease | - | - | Short stature, idiopathic, autosomal (ISSA) [MIM:604271] |
Q92847 | non-pleiotropic | VAR_049389 | p.Thr5Ile | Non-Disease | rs2232165 | 0.0347 | - |
P27352 | non-pleiotropic | VAR_022742 | p.Gln23Arg | Non-Disease | rs35211634 | 0.0849 | - |
P27352 | non-pleiotropic | VAR_048753 | p.Gly65Arg | Non-Disease | rs11825834 | 0.0041 | - |
P27352 | non-pleiotropic | VAR_022743 | p.Ser46Leu | Disease | - | - | Hereditary intrinsic factor deficiency (IFD) [MIM:261000] |
P27352 | non-pleiotropic | VAR_022744 | p.Asn255Ser | Non-Disease | rs35867471 | 0.0174 | - |
Q6Y7W6 | non-pleiotropic | VAR_044444 | p.Pro460Thr | Non-Disease | rs2289912 | 0.09 | - |
Q6Y7W6 | non-pleiotropic | VAR_044446 | p.His1171Arg | Non-Disease | rs72554081 | 0.0005 | - |
Q6Y7W6 | non-pleiotropic | VAR_044443 | p.Asn457Thr | Disease | rs116074753 | 0.0002 | Parkinson disease 11 (PARK11) [MIM:607688] |
Q6Y7W6 | non-pleiotropic | VAR_044440 | p.Thr112Ala | Disease | - | - | Parkinson disease 11 (PARK11) [MIM:607688] |
Q6Y7W6 | non-pleiotropic | VAR_044442 | p.Ser335Thr | Disease | - | - | Parkinson disease 11 (PARK11) [MIM:607688] |
Q6Y7W6 | non-pleiotropic | VAR_044449 | p.Val1242Ile | Disease | - | - | Parkinson disease 11 (PARK11) [MIM:607688] |
Q6Y7W6 | non-pleiotropic | VAR_044445 | p.Asp606Glu | Disease | - | - | Parkinson disease 11 (PARK11) [MIM:607688] |
Q6Y7W6 | non-pleiotropic | VAR_051268 | p.Pro423Leu | Non-Disease | rs34845648 | 0.0078 | - |
Q6Y7W6 | non-pleiotropic | VAR_044441 | p.Ile278Val | Disease | rs118203904 | 0.0002 | Parkinson disease 11 (PARK11) [MIM:607688] |
Q8TF64 | non-pleiotropic | VAR_065969 | p.Gly94Asp | Disease | - | - | Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] |
Q8TF64 | non-pleiotropic | VAR_065967 | p.Gly46Arg | Disease | - | - | Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] |
Q8TF64 | non-pleiotropic | VAR_065973 | p.Leu262Arg | Disease | - | - | Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] |
Q8TF64 | non-pleiotropic | VAR_065972 | p.Gly256Asp | Disease | - | - | Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] |
Q8TF64 | non-pleiotropic | VAR_065970 | p.Arg189Cys | Disease | - | - | Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] |
Q8TF64 | non-pleiotropic | VAR_065968 | p.Met88Ile | Disease | - | - | Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] |
Q8TF64 | non-pleiotropic | VAR_065971 | p.Thr221Ile | Disease | - | - | Deafness, autosomal recessive, 15 (DFNB15) [MIM:601869] |
P17302 | pleiotropic | VAR_032924 | p.Arg362Gln | Disease | rs2227885 | 0.0002 | Atrioventricular septal defect 3 (AVSD3) [MIM:600309] Hypoplastic left heart syndrome 1 (HLHS1) [MIM:241550] |
P17302 | pleiotropic | VAR_059013 | p.Thr326Ala | Non-Disease | - | - | - |
P17302 | pleiotropic | VAR_015757 | p.Tyr98Cys | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_038356 | p.Ser27Pro | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_058990 | p.Gly2Val | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_059001 | p.Val96Met | Disease | rs28931601 | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_015755 | p.Arg76Ser | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |
P17302 | pleiotropic | VAR_058998 | p.His95Arg | Disease | - | - | Oculodentodigital dysplasia (ODDD) [MIM:164200] |