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
Disease name
Protein type
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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 74 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9GZX3 non-pleiotropic VAR_021467 p.Glu274Lys Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021418 p.Leu22Arg Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021460 p.Arg211Gln Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021452 p.Arg202Ser Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_033735 p.Asn369Asp Non-Disease rs35036798 - -
Q9GZX3 non-pleiotropic VAR_021461 p.Arg211Trp Disease rs202175444 0.0002 Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021417 p.Leu15Pro Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021466 p.Tyr268Cys Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021459 p.Ser210Phe Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021454 p.Pro204Gln Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021435 p.Cys102Gly Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021465 p.His249Pro Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021464 p.Asp221Tyr Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021430 p.Pro72Ser Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021441 p.Gln122Pro Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021421 p.Arg50Cys Disease rs28937877 - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021431 p.Val76Met Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021432 p.Arg93His Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021450 p.Val198Glu Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021434 p.Ser98Trp Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021463 p.Asp221Glu Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021448 p.Lys174Arg Disease rs28937878 - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021423 p.Gly52Asp Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021436 p.Cys102Tyr Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021420 p.His42Tyr Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021428 p.Tyr68His Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021419 p.Pro31Ser Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021425 p.Leu59Pro Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021429 p.Met70Leu Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021422 p.Ser51Leu Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021440 p.Phe121Leu Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021433 p.Arg97Pro Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q9GZX3 non-pleiotropic VAR_021457 p.Ala206Thr Disease - - Macular dystrophy, corneal, 1 (MCDC1) [MIM:217800]
Q86X52 non-pleiotropic VAR_065822 p.Pro539Arg Disease - - Temtamy preaxial brachydactyly syndrome (TPBS) [MIM:605282]
Q86X52 non-pleiotropic VAR_021173 p.Pro359Ser Non-Disease rs3743193 0.129 -
Q86X52 non-pleiotropic VAR_028009 p.Gln652His Non-Disease rs4426333 - -
O75838 pleiotropic VAR_069089 p.Ile123Thr Disease - - Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]
O75838 pleiotropic VAR_069087 p.Phe91Ser Disease - - Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]
O75838 pleiotropic VAR_069086 p.Glu64Asp Disease - - Usher syndrome 1J (USH1J) [MIM:614869]
O75838 pleiotropic VAR_069088 p.Cys99Trp Disease - - Deafness, autosomal recessive, 48 (DFNB48) [MIM:609439]
P33076 non-pleiotropic VAR_029270 p.Leu45Val Non-Disease rs2229317 0.1501 -
P33076 non-pleiotropic VAR_057711 p.Val782Ala Non-Disease rs13336804 0.051 -
P33076 non-pleiotropic VAR_060104 p.Ser781Leu Non-Disease rs13330686 0.051 -
P33076 non-pleiotropic VAR_005128 p.Gly500Ala Non-Disease rs4774 0.2622 -
P33076 non-pleiotropic VAR_015553 p.Phe962Ser Disease - - Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]
P33076 non-pleiotropic VAR_015551 p.Leu469Pro Disease - - Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]
P33076 non-pleiotropic VAR_047908 p.Gln900Arg Non-Disease rs7197779 0.0537 -
P33076 non-pleiotropic VAR_047907 p.Arg174Gly Non-Disease rs8046121 0.0106 -
P33076 non-pleiotropic VAR_015552 p.Ala658Gly Non-Disease rs2229319 0.011 -
Q969X6 non-pleiotropic VAR_053388 p.Arg438His Non-Disease rs8056684 0.0078 -