Variant List

Listed below are all the variants used in our analysis. You can refine the list by using the panel below.
To see only proteins and their associated diseases, see page.

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UniProtID
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Statistics

Found 7392 SAVs (36.7 %)from  pleiotropic protein  and 12743 SAVs (63.3 %) from non-pleiotropic protein.

pleiotropic

15222  disease SAVs  (75.6 %) and 4913 non-disease (24.4 %).

disease

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]