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 16 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P30566 non-pleiotropic VAR_017086 p.Arg374Trp Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017089 p.Asp422Tyr Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_016931 p.Met26Leu Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_007977 p.Ser395Arg Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017078 p.Ala3Val Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017080 p.Tyr114His Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017087 p.Arg396Cys Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_000680 p.Ser438Pro Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_007972 p.Ile72Val Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_007978 p.Arg426His Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017092 p.Ser447Pro Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017079 p.Pro100Ala Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017093 p.Arg452Pro Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_037884 p.Lys147Met Non-Disease rs11089991 0.0096 -
P30566 non-pleiotropic VAR_017082 p.Asp268Asn Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_016932 p.Thr450Ser Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017088 p.Arg396His Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017085 p.Val364Met Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_007973 p.Arg141Trp Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017081 p.Arg194Cys Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017090 p.Leu423Val Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_017091 p.Asp430Asn Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_007975 p.Lys246Glu Disease - - Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P30566 non-pleiotropic VAR_007974 p.Arg190Gln Disease rs28941471 0.001 Adenylosuccinase deficiency (ADSL deficiency) [MIM:103050]
P20933 non-pleiotropic VAR_005072 p.Arg161Gln Disease rs192195150 0.0006 Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_015431 p.Gly252Arg Disease - - Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_033533 p.Thr149Ser Non-Disease rs2228119 0.0657 -
P20933 non-pleiotropic VAR_015430 p.Gly252Glu Disease - - Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_015428 p.Gly100Glu Disease - - Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_015432 p.Thr257Ile Disease - - Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_005074 p.Gly302Arg Disease - - Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_005070 p.Ser72Pro Disease - - Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_005071 p.Ala101Val Disease - - Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_005069 p.Gly60Asp Disease - - Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_005073 p.Cys163Ser Disease rs121964904 0.0004 Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_061026 p.Thr322Ile Non-Disease rs56849061 0.0028 -
P20933 non-pleiotropic VAR_005075 p.Cys306Arg Disease - - Aspartylglucosaminuria (AGU) [MIM:208400]
P20933 non-pleiotropic VAR_015429 p.Phe135Ser Disease - - Aspartylglucosaminuria (AGU) [MIM:208400]
Q96MI9 non-pleiotropic VAR_048605 p.Ser435Pro Non-Disease rs11857527 0.1221 -
Q96MI9 non-pleiotropic VAR_070225 p.Cys990Ser Disease - - Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523]
Q96MI9 non-pleiotropic VAR_048604 p.Pro417Leu Non-Disease rs8029810 0.0298 -
Q96MI9 non-pleiotropic VAR_059195 p.Gln1010Arg Non-Disease rs8028043 0.1276 -
Q8N302 non-pleiotropic VAR_017902 p.Pro698Thr Non-Disease rs34400049 0.2346 -
Q8N302 non-pleiotropic VAR_037447 p.Leu471Pro Non-Disease rs17856835 - -
Q8N302 non-pleiotropic VAR_017901 p.Glu133Lys Disease rs34203073 0.0078 Klippel-Trenaunay syndrome (KTS) [MIM:149000]
Q8N302 non-pleiotropic VAR_037446 p.Thr180Ala Non-Disease rs9715897 - -
O15120 non-pleiotropic VAR_017325 p.Ala239Val Disease rs145975461 0.0028 Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
O15120 non-pleiotropic VAR_017327 p.Leu228Pro Disease - - Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
O15120 non-pleiotropic VAR_017328 p.Gly136Arg Disease - - Congenital generalized lipodystrophy 1 (CGL1) [MIM:608594]
O00116 non-pleiotropic VAR_066931 p.Thr568Met Disease - - Rhizomelic chondrodysplasia punctata 3 (RCDP3) [MIM:600121]