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 51 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P02746 non-pleiotropic VAR_008541 p.Gly42Asp Disease - - Complement component C1q deficiency (C1QD) [MIM:613652]
P02747 non-pleiotropic VAR_008542 p.Gly34Arg Disease - - Complement component C1q deficiency (C1QD) [MIM:613652]
Q9BXJ0 non-pleiotropic VAR_032628 p.Gln44Arg Non-Disease rs11538245 - -
Q9BXJ0 non-pleiotropic VAR_032629 p.Ser163Arg Disease - - Late-onset retinal degeneration (LORD) [MIM:605670]
A6NGG8 non-pleiotropic VAR_065282 p.Ala959Thr Non-Disease rs192350796 0.0005 -
A6NGG8 non-pleiotropic VAR_065281 p.Arg955Gln Non-Disease rs184249075 0.0005 -
A6NGG8 non-pleiotropic VAR_042649 p.Leu792Val Non-Disease rs17744093 0.1483 -
A6NGG8 non-pleiotropic VAR_065273 p.Asp372Asn Disease rs201284350 0.0002 Retinitis pigmentosa 54 (RP54) [MIM:613428]
A6NGG8 non-pleiotropic VAR_042646 p.Ser13Cys Non-Disease rs10084168 0.039 -
A6NGG8 non-pleiotropic VAR_042648 p.Thr580Met Non-Disease rs10166913 0.1979 -
A6NGG8 non-pleiotropic VAR_065288 p.Gly1247Ser Non-Disease rs187333111 0.0014 -
A6NGG8 non-pleiotropic VAR_065277 p.Ala628Thr Non-Disease - - -
A6NGG8 non-pleiotropic VAR_065272 p.Arg320Cys Non-Disease - - -
A6NGG8 non-pleiotropic VAR_065271 p.Ser312Asn Non-Disease - - -
A6NGG8 non-pleiotropic VAR_065267 p.Glu227Lys Non-Disease rs114057537 0.0202 -
A6NGG8 non-pleiotropic VAR_065283 p.Gln1020Arg Non-Disease - - -
A6NGG8 non-pleiotropic VAR_065274 p.Glu378Lys Non-Disease rs201900716 0.0005 -
A6NGG8 non-pleiotropic VAR_065279 p.Cys688Tyr Non-Disease rs149601594 0.0041 -
A6NGG8 non-pleiotropic VAR_065278 p.Ala648Pro Non-Disease - - -
A6NGG8 non-pleiotropic VAR_042650 p.Pro1254Leu Non-Disease rs1975713 0.0073 -
A6NGG8 non-pleiotropic VAR_063396 p.Pro867Leu Non-Disease rs182248363 0.0014 -
A6NGG8 non-pleiotropic VAR_065276 p.Val615Asp Disease rs140776870 0.013 Retinitis pigmentosa 54 (RP54) [MIM:613428]
A6NGG8 non-pleiotropic VAR_065285 p.Ala1160Thr Non-Disease - - -
A6NGG8 non-pleiotropic VAR_065269 p.Ala252Asp Non-Disease rs77003681 0.0119 -
A6NGG8 non-pleiotropic VAR_065268 p.Val247Ala Non-Disease rs77828062 0.011 -
A6NGG8 non-pleiotropic VAR_042647 p.Lys421Arg Non-Disease rs17007544 0.1102 -
A6NGG8 non-pleiotropic VAR_065275 p.Leu612Pro Disease rs200758183 0.0014 Retinitis pigmentosa 54 (RP54) [MIM:613428]
A6NGG8 non-pleiotropic VAR_065280 p.Pro954Ser Non-Disease - - -
A6NGG8 non-pleiotropic VAR_063395 p.Ile201Phe Disease - - Retinitis pigmentosa 54 (RP54) [MIM:613428]
A6NGG8 non-pleiotropic VAR_065286 p.Arg1177Gln Non-Disease - - -
A6NGG8 non-pleiotropic VAR_065270 p.Arg258Ile Non-Disease rs116156338 0.011 -
P01024 pleiotropic VAR_020262 p.Glu469Asp Non-Disease rs11569422 0.0124 -
P01024 pleiotropic VAR_063216 p.Ala1094Val Disease - - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024 pleiotropic VAR_063215 p.Arg735Trp Disease rs117793540 0.0008 Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024 pleiotropic VAR_029793 p.His1601Asn Non-Disease rs1803225 - -
P01024 pleiotropic VAR_001983 p.Arg102Gly Non-Disease rs2230199 0.0978 -
P01024 pleiotropic VAR_001985 p.Asp549Asn Disease - - Complement component 3 deficiency (C3D) [MIM:613779]
P01024 pleiotropic VAR_001986 p.Arg1320Gln Disease - - Complement component 3 deficiency (C3D) [MIM:613779]
P01024 pleiotropic VAR_063218 p.Cys1158Trp Disease - - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024 pleiotropic VAR_019208 p.Ile1367Thr Non-Disease rs11569541 0.0041 -
P01024 pleiotropic VAR_019207 p.Gly1224Asp Non-Disease rs11569534 0.0087 -
P01024 pleiotropic VAR_001984 p.Pro314Leu Non-Disease rs1047286 0.0859 -
P01024 pleiotropic VAR_063214 p.Arg592Trp Disease - - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024 pleiotropic VAR_019206 p.Arg863Lys Non-Disease rs11569472 - -
P01024 pleiotropic VAR_063654 p.Phe603Val Disease - - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024 pleiotropic VAR_063213 p.Arg592Gln Disease - - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024 pleiotropic VAR_063219 p.Gln1161Lys Disease - - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]
P01024 pleiotropic VAR_029792 p.Gln1521Arg Non-Disease rs7256789 - -
P01024 pleiotropic VAR_070941 p.Lys155Gln Disease - - Macular degeneration, age-related, 9 (ARMD9) [MIM:611378]
P01024 pleiotropic VAR_063655 p.Arg1042Leu Disease - - Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925]