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
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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 104 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P11532 pleiotropic VAR_005149 p.Ala168Asp Disease - - Becker muscular dystrophy (BMD) [MIM:300376]
P11532 pleiotropic VAR_005158 p.Thr1245Ile Non-Disease rs1800269 0.0085 -
P11532 pleiotropic VAR_005147 p.Leu54Arg Disease - - Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532 pleiotropic VAR_057644 p.Thr715Ser Non-Disease rs16998350 0.0074 -
P11532 pleiotropic VAR_005163 p.Arg1844Ser Non-Disease rs1801186 - -
P11532 pleiotropic VAR_062110 p.Ser666Leu Non-Disease rs34563188 0.005 -
P11532 pleiotropic VAR_005157 p.Val1197Phe Non-Disease rs1800262 - -
Q9UI17 non-pleiotropic VAR_014951 p.Ala530Gly Non-Disease rs1805073 0.2989 -
Q9UI17 non-pleiotropic VAR_014952 p.Ser646Pro Non-Disease rs1805074 0.2961 -
Q9UI17 non-pleiotropic VAR_011505 p.His109Arg Disease rs121908331 0.0022 DMGDH deficiency (DMGDHD) [MIM:605850]
Q9UI17 non-pleiotropic VAR_014950 p.Ser279Pro Non-Disease rs532964 0.3921 -
P51530 non-pleiotropic VAR_069907 p.Val637Ile Disease - - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156]
P51530 non-pleiotropic VAR_069905 p.Arg198His Disease - - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156]
P51530 non-pleiotropic VAR_069906 p.Lys227Glu Disease - - Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6 (PEOA6) [MIM:615156]
Q8NEP3 non-pleiotropic VAR_047671 p.Gly703Arg Non-Disease rs4150188 0.0005 -
Q8NEP3 non-pleiotropic VAR_047664 p.Glu432Asp Non-Disease rs9972733 0.1006 -
Q8NEP3 non-pleiotropic VAR_047665 p.Pro502Leu Non-Disease rs11644164 0.3099 -
Q8NEP3 non-pleiotropic VAR_047672 p.Pro712Ala Non-Disease rs4150187 0.0064 -
Q8NEP3 non-pleiotropic VAR_047670 p.Ser675Thr Non-Disease rs2288023 0.3026 -
Q8NEP3 non-pleiotropic VAR_047668 p.Leu659Pro Non-Disease rs2288022 0.3021 -
Q8NEP3 non-pleiotropic VAR_063098 p.Leu175Arg Disease - - Ciliary dyskinesia, primary, 13 (CILD13) [MIM:613193]
Q8NEP3 non-pleiotropic VAR_047662 p.Asp387Glu Non-Disease rs36062234 0.0533 -
Q8NEP3 non-pleiotropic VAR_047666 p.Phe545Cys Non-Disease rs17856706 - -
Q8NEP3 non-pleiotropic VAR_047669 p.Leu659Val Non-Disease rs2288021 0.1387 -
Q8NEP3 non-pleiotropic VAR_047667 p.Leu633Ser Non-Disease rs2288020 0.303 -
Q8NEP3 non-pleiotropic VAR_047663 p.Lys393Arg Non-Disease rs17856705 0.3646 -
Q8N9W5 non-pleiotropic VAR_055307 p.Gly331Trp Non-Disease rs7508641 - -
Q8N9W5 non-pleiotropic VAR_055308 p.Asp365Asn Non-Disease rs890872 0.0 -
Q8N9W5 non-pleiotropic VAR_067301 p.Ala278Thr Non-Disease - - -
Q8N9W5 non-pleiotropic VAR_067300 p.Leu61Pro Disease - - Ciliary dyskinesia, primary, 2 (CILD2) [MIM:606763]
Q8N9W5 non-pleiotropic VAR_055306 p.Glu292Gly Non-Disease rs2365725 0.2089 -
Q96DT5 non-pleiotropic VAR_042946 p.Met4172Val Non-Disease rs6461613 0.3526 -
Q96DT5 non-pleiotropic VAR_013854 p.Val1023Ala Non-Disease rs10269582 0.2433 -
Q96DT5 non-pleiotropic VAR_013852 p.Gln639Arg Non-Disease rs12670130 0.1676 -
Q96DT5 non-pleiotropic VAR_013860 p.Ala3474Thr Non-Disease rs2214326 0.4991 -
Q96DT5 non-pleiotropic VAR_013859 p.Arg3004Gln Disease rs35865357 0.006 Ciliary dyskinesia, primary, 7 (CILD7) [MIM:611884]
Q96DT5 non-pleiotropic VAR_013853 p.Ser654Cys Non-Disease - 0.0918 -
Q96DT5 non-pleiotropic VAR_042944 p.Glu34Val Non-Disease rs2285944 0.3747 -
Q96DT5 non-pleiotropic VAR_013855 p.Thr1038Ala Non-Disease rs10224537 0.2181 -
Q96DT5 non-pleiotropic VAR_013863 p.Thr4177Ile Non-Disease rs12537531 0.3684 -
Q96DT5 non-pleiotropic VAR_042945 p.Met1316Val Non-Disease rs17144788 0.0119 -
Q96DT5 non-pleiotropic VAR_013862 p.Ser3765Pro Non-Disease rs17145720 0.0762 -
Q96DT5 non-pleiotropic VAR_013857 p.Ser2641Asn Non-Disease rs9639393 0.3728 -
Q96DT5 non-pleiotropic VAR_013856 p.Asp1640Gly Non-Disease rs17144835 0.0344 -
Q96DT5 non-pleiotropic VAR_013858 p.Ile2682Val Non-Disease - 0.0032 -
Q96DT5 non-pleiotropic VAR_060141 p.Tyr2593His Non-Disease rs2003417 0.0188 -
Q96DT5 non-pleiotropic VAR_013861 p.Leu3715Val Non-Disease rs4722064 0.4595 -
Q9UI46 non-pleiotropic VAR_033877 p.Gln326His Non-Disease rs16931555 0.0083 -
Q9UI46 non-pleiotropic VAR_033879 p.Val487Gly Non-Disease rs11999454 0.0675 -
Q9UI46 non-pleiotropic VAR_033878 p.Val335Ile Non-Disease rs11793196 0.1598 -