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 45 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q00973 non-pleiotropic VAR_070235 p.Arg300Cys Disease - - Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]
Q00973 non-pleiotropic VAR_070236 p.Asp433Ala Disease - - Spastic paraplegia 26, autosomal recessive (SPG26) [MIM:609195]
Q00973 non-pleiotropic VAR_049237 p.Ala516Val Non-Disease rs17454674 0.0051 -
Q00973 non-pleiotropic VAR_012052 p.Leu35Val Non-Disease rs774896 0.247 -
Q9UBV7 non-pleiotropic VAR_010294 p.Leu206Pro Disease - - Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) [MIM:130070]
Q9UBV7 non-pleiotropic VAR_010293 p.Ala186Asp Disease - - Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) [MIM:130070]
Q9BPU9 non-pleiotropic VAR_066996 p.Ile11Met Non-Disease rs2241714 0.3489 -
Q9BPU9 non-pleiotropic VAR_036626 p.Ser101Arg Disease - - Meckel syndrome 10 (MKS10) [MIM:614175]
Q14032 non-pleiotropic VAR_052303 p.Arg20Gln Non-Disease rs1572983 0.3829 -
Q14032 non-pleiotropic VAR_023737 p.Met76Val Disease rs28937579 - Familial hypercholanemia (FHCA) [MIM:607748]
O95817 pleiotropic VAR_066784 p.Pro380Ser Non-Disease rs144692954 0.0032 -
O95817 pleiotropic VAR_066779 p.Pro115Ser Non-Disease - - -
O95817 pleiotropic VAR_066780 p.Ala155Thr Non-Disease rs61756328 0.0018 -
O95817 pleiotropic VAR_066781 p.Arg218Trp Disease - - Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817 pleiotropic VAR_066788 p.Glu553Asp Non-Disease - - -
O95817 pleiotropic VAR_048347 p.Pro407Leu Non-Disease rs3858340 0.1552 -
O95817 pleiotropic VAR_066786 p.Leu462Pro Disease - - Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817 pleiotropic VAR_066777 p.Pro77Leu Non-Disease rs141355480 0.0005 -
O95817 pleiotropic VAR_048346 p.Ala405Val Non-Disease rs11199064 - -
O95817 pleiotropic VAR_063089 p.Pro209Leu Disease rs121918312 - Myopathy, myofibrillar, 6 (MFM6) [MIM:612954]
O95817 pleiotropic VAR_048344 p.Arg71Gln Non-Disease rs35434411 0.0129 -
O95817 pleiotropic VAR_065479 p.Arg71Trp Disease - - Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817 pleiotropic VAR_066787 p.Val468Met Disease - - Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817 pleiotropic VAR_066782 p.Arg258Trp Non-Disease rs117671123 0.0046 -
O95817 pleiotropic VAR_066778 p.Ile94Phe Non-Disease rs145393807 0.0009 -
O95817 pleiotropic VAR_048345 p.Cys151Arg Non-Disease rs2234962 0.0996 -
O95817 pleiotropic VAR_066783 p.Asp300Asn Non-Disease rs78439745 0.0018 -
O95817 pleiotropic VAR_065480 p.Arg477His Disease - - Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O95817 pleiotropic VAR_066785 p.Glu455Lys Disease - - Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881]
O75531 non-pleiotropic VAR_065954 p.Ala12Thr Disease - - Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008]
Q8NFJ9 non-pleiotropic VAR_017215 p.Glu234Lys Disease rs35520756 0.0284 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_038886 p.Tyr434Ser Disease - - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_038883 p.Arg160Gln Disease - - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_038884 p.Gly305Ser Disease - - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_017217 p.Leu518Pro Disease - - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_038882 p.Asp148Asn Disease rs200688985 0.0012 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_038880 p.His35Arg Disease - - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_017216 p.Met390Arg Disease rs113624356 0.001 Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_066485 p.Leu206Val Non-Disease rs146052054 0.0005 -
Q8NFJ9 non-pleiotropic VAR_038881 p.Lys53Glu Disease - - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_038887 p.Leu503His Disease - - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_038888 p.Leu518Gln Disease - - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8NFJ9 non-pleiotropic VAR_066278 p.Ile330Thr Disease - - Bardet-Biedl syndrome 1 (BBS1) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026391 p.Arg34Pro Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026405 p.Tyr613Cys Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_066256 p.Ala296Thr Non-Disease rs150587582 0.0005 -
Q8TAM1 non-pleiotropic VAR_026408 p.Thr689Pro Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026400 p.Ser329Leu Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_066260 p.Leu687Pro Disease - - Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]
Q8TAM1 non-pleiotropic VAR_026406 p.Tyr613His Disease rs141647931 0.0004 Bardet-Biedl syndrome 10 (BBS10) [MIM:209900]