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
Variant 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 44 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P01185 non-pleiotropic VAR_004991 p.Gly88Ser Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015271 p.Gly96Val Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_019273 p.Val67Ala Disease rs28934878 - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015266 p.Gly54Val Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_029997 p.Cys58Phe Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004986 p.Pro55Leu Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004985 p.Arg51Cys Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004980 p.Ser17Phe Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015269 p.Ser87Phe Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015265 p.Gly54Arg Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015276 p.Cys105Arg Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_019275 p.Cys104Gly Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_019276 p.Cys116Trp Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015278 p.Cys116Arg Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015277 p.Cys116Gly Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015267 p.Cys59Arg Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004993 p.Gly93Trp Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015270 p.Cys92Tyr Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015264 p.Cys52Arg Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004984 p.Gly48Val Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004990 p.Gly88Arg Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004982 p.Ala19Val Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_011894 p.Pro82Leu Non-Disease rs5195 0.0018 -
P01185 non-pleiotropic VAR_015279 p.Cys105Tyr Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004994 p.Gly96Cys Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015268 p.Cys59Tyr Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015275 p.Cys104Phe Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004983 p.Gly45Arg Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015274 p.Cys98Gly Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004989 p.Leu81Pro Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015262 p.Tyr21His Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015273 p.Arg97Pro Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_029998 p.Cys98Ser Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_011895 p.Gly119Val Non-Disease rs1051744 - -
P01185 non-pleiotropic VAR_004992 p.Cys92Ser Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015263 p.Pro26Leu Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004988 p.Glu78Gly Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_019274 p.Gly96Asp Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_004981 p.Ala19Thr Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P01185 non-pleiotropic VAR_015272 p.Arg97Cys Disease - - Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]
P61769 non-pleiotropic VAR_030660 p.Ala11Pro Disease - - Hypercatabolic hypoproteinemia (HYCATHYP) [MIM:241600]
Q8NCR0 non-pleiotropic VAR_069641 p.Arg292Pro Disease - - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
Q8NCR0 non-pleiotropic VAR_069640 p.Val268Met Disease - - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
Q8NCR0 non-pleiotropic VAR_069639 p.Val252Gly Disease - - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
Q8NCR0 non-pleiotropic VAR_069638 p.Gly247Glu Disease - - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A11 (MDDGA11) [MIM:615181]
O94766 non-pleiotropic VAR_066624 p.Arg277Gln Disease - - Multiple joint dislocations short stature craniofacial dysmorphism and congenital heart defects (JDSSDHD) [MIM:245600]
O43505 non-pleiotropic VAR_069989 p.Asn390Asp Disease - - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]
O43505 non-pleiotropic VAR_069990 p.Ala406Val Disease - - Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A13 (MDDGA13) [MIM:615287]
O43505 non-pleiotropic VAR_025019 p.Thr253Ser Non-Disease rs35429253 0.0002 -
Q00973 non-pleiotropic VAR_012053 p.Gly172Arg Non-Disease rs810205 0.0174 -