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 47 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9BXC9 non-pleiotropic VAR_013162 p.Asn70Ser Disease rs4784677 0.0036 Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_013163 p.Val75Gly Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_066284 p.Tyr317Cys Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_066282 p.Ala136Pro Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_038891 p.Leu349Trp Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_029748 p.Ala504Val Non-Disease rs16957538 0.0147 -
Q9BXC9 non-pleiotropic VAR_066280 p.Gly81Cys Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_013164 p.Asp104Ala Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_013165 p.Ile123Val Non-Disease rs11373 0.2645 -
Q9BXC9 non-pleiotropic VAR_013167 p.Arg315Trp Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_013166 p.Arg315Gln Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_038892 p.Arg643His Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_038889 p.Arg23Pro Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_038890 p.Asp174Glu Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q9BXC9 non-pleiotropic VAR_029747 p.Ala122Val Non-Disease rs17856449 - -
Q9BXC9 non-pleiotropic VAR_013168 p.Thr558Ile Disease - - Bardet-Biedl syndrome 2 (BBS2) [MIM:209900]
Q96RK4 non-pleiotropic VAR_038896 p.Asp368Gly Disease - - Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]
Q96RK4 non-pleiotropic VAR_017050 p.Leu327Pro Disease - - Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]
Q96RK4 non-pleiotropic VAR_038897 p.Pro503Leu Disease - - Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]
Q96RK4 non-pleiotropic VAR_017054 p.Ile354Thr Non-Disease rs2277598 0.4509 -
Q96RK4 non-pleiotropic VAR_066288 p.Glu412Asp Non-Disease rs147202164 0.0022 -
Q96RK4 non-pleiotropic VAR_013170 p.Arg295Pro Disease - - Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]
Q96RK4 non-pleiotropic VAR_017052 p.Ser457Ile Disease - - Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]
Q96RK4 non-pleiotropic VAR_028723 p.Ala393Val Non-Disease rs17852452 - -
Q96RK4 non-pleiotropic VAR_038895 p.Leu351Arg Disease - - Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]
Q96RK4 non-pleiotropic VAR_028722 p.Glu268Lys Non-Disease rs11638283 - -
Q96RK4 non-pleiotropic VAR_017049 p.Asn165His Disease - - Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]
Q96RK4 non-pleiotropic VAR_017051 p.Ala364Glu Disease - - Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]
Q96RK4 non-pleiotropic VAR_017053 p.Met472Val Disease rs2277596 0.0014 Bardet-Biedl syndrome 4 (BBS4) [MIM:209900]
Q96RK4 non-pleiotropic VAR_038894 p.Lys46Arg Non-Disease rs75295839 0.0046 -
Q8N3I7 non-pleiotropic VAR_066290 p.Gly72Ser Disease - - Bardet-Biedl syndrome 5 (BBS5) [MIM:209900]
Q8N3I7 non-pleiotropic VAR_025316 p.Asn184Ser Non-Disease rs150063999 0.0023 -
Q8N3I7 non-pleiotropic VAR_066291 p.Asn251Asp Non-Disease rs143113298 0.0005 -
Q8N3I7 non-pleiotropic VAR_025317 p.Arg207His Non-Disease rs35487251 0.005 -
Q8IWZ6 non-pleiotropic VAR_017212 p.Thr211Ile Disease - - Bardet-Biedl syndrome 7 (BBS7) [MIM:209900]
Q8IWZ6 non-pleiotropic VAR_017213 p.His323Arg Disease - - Bardet-Biedl syndrome 7 (BBS7) [MIM:209900]
Q8IWZ6 non-pleiotropic VAR_038893 p.Ile66Phe Disease - - Bardet-Biedl syndrome 7 (BBS7) [MIM:209900]
Q8IWZ6 non-pleiotropic VAR_066286 p.Gly63Arg Disease - - Bardet-Biedl syndrome 7 (BBS7) [MIM:209900]
Q3SYG4 non-pleiotropic VAR_051290 p.Ala455Thr Non-Disease rs11773504 0.1731 -
Q3SYG4 non-pleiotropic VAR_051291 p.Arg521Gln Non-Disease rs34218557 0.006 -
Q3SYG4 non-pleiotropic VAR_066294 p.Leu779Gln Non-Disease rs142434516 0.0023 -
Q3SYG4 non-pleiotropic VAR_026389 p.Gly141Arg Disease - - Bardet-Biedl syndrome 9 (BBS9) [MIM:209900]
Q3SYG4 non-pleiotropic VAR_051289 p.Thr12Ala Non-Disease rs4498440 0.022 -
Q3SYG4 non-pleiotropic VAR_026390 p.Ala455Val Non-Disease rs11773504 0.1713 -
Q3SYG4 non-pleiotropic VAR_066293 p.Leu665Phe Non-Disease rs116262072 0.0037 -
Q3SYG4 non-pleiotropic VAR_066292 p.Thr549Ile Non-Disease rs59252892 0.0055 -
P06276 non-pleiotropic VAR_040038 p.Trp499Arg Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040033 p.Gly393Arg Disease rs115129687 0.0004 Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040021 p.Tyr156Cys Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
P06276 non-pleiotropic VAR_040024 p.Ser226Gly Disease - - Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]