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 60 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P15529 | non-pleiotropic | VAR_026569 | p.Pro165Ser | Disease | - | - | Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922] |
P15529 | non-pleiotropic | VAR_063657 | p.Trp216Cys | Disease | - | - | Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922] |
P15529 | non-pleiotropic | VAR_026567 | p.Ser13Phe | Non-Disease | rs138843816 | 0.0101 | - |
P15529 | non-pleiotropic | VAR_022265 | p.Val355Gly | Non-Disease | - | - | - |
P15529 | non-pleiotropic | VAR_022262 | p.Asp266Asn | Non-Disease | rs17006830 | 0.0046 | - |
P15529 | non-pleiotropic | VAR_026570 | p.Ser240Pro | Disease | - | - | Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922] |
P15529 | non-pleiotropic | VAR_022264 | p.Ala353Val | Non-Disease | rs35366573 | 0.0078 | - |
P15529 | non-pleiotropic | VAR_022263 | p.Pro324Leu | Non-Disease | rs41317833 | 0.0009 | - |
P13987 | non-pleiotropic | VAR_070124 | p.Cys89Tyr | Disease | - | - | Hemolytic anemia, CD59-mediated, with or without polyneuropathy (HACD59) [MIM:612300] |
P40259 | non-pleiotropic | VAR_057833 | p.Gly137Ser | Disease | - | - | Agammaglobulinemia 6, autosomal recessive (AGM6) [MIM:612692] |
P01732 | non-pleiotropic | VAR_021020 | p.Gly111Ser | Disease | - | - | CD8 deficiency, familial (CD8 deficiency) [MIM:608957] |
P40200 | non-pleiotropic | VAR_037578 | p.Thr280Met | Disease | - | - | C syndrome (CSYN) [MIM:211750] |
P40200 | non-pleiotropic | VAR_021928 | p.Ala142Pro | Non-Disease | rs2276872 | 0.067 | - |
Q8IWY9 | non-pleiotropic | VAR_056785 | p.Gln596Arg | Non-Disease | rs12917189 | 0.3857 | - |
Q8IWY9 | non-pleiotropic | VAR_017222 | p.Phe868Ile | Disease | - | - | Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] |
Q8IWY9 | non-pleiotropic | VAR_017224 | p.Arg1042Trp | Disease | - | - | Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] |
Q8IWY9 | non-pleiotropic | VAR_017218 | p.Asn599Ser | Disease | - | - | Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] |
Q8IWY9 | non-pleiotropic | VAR_059602 | p.Gln107Leu | Non-Disease | rs4265781 | 0.3912 | - |
Q8IWY9 | non-pleiotropic | VAR_017219 | p.Pro672Leu | Disease | - | - | Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] |
Q8IWY9 | non-pleiotropic | VAR_017225 | p.Asp1043Val | Disease | - | - | Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] |
Q8IWY9 | non-pleiotropic | VAR_056786 | p.Arg891Cys | Non-Disease | rs8023524 | 0.2107 | - |
Q8IWY9 | non-pleiotropic | VAR_017221 | p.Arg714Trp | Disease | rs80338696 | 0.0004 | Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] |
Q8IWY9 | non-pleiotropic | VAR_017223 | p.Val869Met | Disease | - | - | Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] |
Q8IWY9 | non-pleiotropic | VAR_017226 | p.Pro1130Leu | Disease | - | - | Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] |
Q8IWY9 | non-pleiotropic | VAR_017220 | p.Glu698Lys | Disease | - | - | Anemia, congenital dyserythropoietic, 1A (CDAN1A) [MIM:224120] |
Q99741 | non-pleiotropic | VAR_019352 | p.Arg378His | Non-Disease | rs4135016 | 0.0005 | - |
Q99741 | non-pleiotropic | VAR_019351 | p.Thr299Met | Non-Disease | rs4135013 | 0.0092 | - |
Q99741 | non-pleiotropic | VAR_065493 | p.Thr323Arg | Disease | - | - | Meier-Gorlin syndrome 5 (MGORS5) [MIM:613805] |
Q99741 | non-pleiotropic | VAR_019350 | p.Asp295Asn | Non-Disease | rs4135012 | 0.0078 | - |
Q99741 | non-pleiotropic | VAR_019349 | p.Thr238Ala | Non-Disease | rs4135010 | 0.0005 | - |
Q99741 | non-pleiotropic | VAR_019353 | p.Val441Ile | Non-Disease | rs13706 | 0.2782 | - |
Q9H251 | pleiotropic | VAR_012178 | p.Arg1746Gln | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_046428 | p.Gln2227Pro | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_027330 | p.Val1620Met | Non-Disease | rs41281330 | 0.0124 | - |
Q9H251 | pleiotropic | VAR_027335 | p.Arg2066Gln | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_012185 | p.Pro2380Leu | Non-Disease | rs4747195 | 0.3283 | - |
Q9H251 | pleiotropic | VAR_027333 | p.Phe1888Ser | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_046421 | p.Ser1876Asn | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_027331 | p.Asp1846Asn | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_024032 | p.Arg1507Gln | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_046410 | p.Val1090Ile | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_027329 | p.Glu1595Lys | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_046406 | p.Val746Ile | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_046413 | p.Asn1282Ser | Non-Disease | - | - | - |
Q9H251 | pleiotropic | VAR_012183 | p.Asp2202Asn | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_027343 | p.Arg2833Gly | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_024034 | p.Ser3245Phe | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_027328 | p.Ala1586Pro | Disease | - | - | Deafness, autosomal recessive, 12 (DFNB12) [MIM:601386] |
Q9H251 | pleiotropic | VAR_046407 | p.His755Tyr | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |
Q9H251 | pleiotropic | VAR_027325 | p.Pro1206Arg | Disease | - | - | Usher syndrome 1D (USH1D) [MIM:601067] |