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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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 167 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P17302 pleiotropic VAR_038359 p.Leu113Pro Disease - - Oculodentodigital dysplasia (ODDD) [MIM:164200]
Q9Y6H8 non-pleiotropic VAR_066712 p.Val28Met Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_023447 p.Pro187Leu Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_030021 p.Phe32Leu Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_022426 p.Leu299Met Non-Disease rs968566 0.017 -
Q9Y6H8 non-pleiotropic VAR_066710 p.Gly2Asp Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_066711 p.Asp3Tyr Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_066714 p.Val44Met Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_066719 p.Asn188Thr Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_009158 p.Asn63Ser Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_030023 p.Arg76His Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_038796 p.Trp45Ser Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_066717 p.Thr87Met Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_066718 p.Pro187Ser Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_030022 p.Pro59Leu Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_066716 p.Arg76Gly Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_066713 p.Arg33Leu Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
Q9Y6H8 non-pleiotropic VAR_066715 p.Asp47Asn Disease - - Cataract 14, multiple types (CTRCT14) [MIM:601885]
P36382 pleiotropic VAR_066251 p.Leu229Met Disease - - Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]
P36382 pleiotropic VAR_035013 p.Pro88Ser Disease - - Atrial standstill 1 (ATRST1) [MIM:108770]
P36382 pleiotropic VAR_066249 p.Val85Ile Disease - - Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]
P36382 pleiotropic VAR_066250 p.Leu221Ile Disease - - Atrial fibrillation, familial, 11 (ATFB11) [MIM:614049]
P36382 pleiotropic VAR_035014 p.Ala96Ser Disease rs121434557 0.0002 Atrial standstill 1 (ATRST1) [MIM:108770]
P48165 non-pleiotropic VAR_038797 p.Arg23Thr Disease - - Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165 non-pleiotropic VAR_038798 p.Val44Glu Disease - - Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165 non-pleiotropic VAR_038801 p.Ile247Met Non-Disease rs80358202 0.0018 -
P48165 non-pleiotropic VAR_038799 p.Glu48Lys Disease - - Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165 non-pleiotropic VAR_002005 p.Pro88Ser Disease - - Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165 non-pleiotropic VAR_069579 p.Asp47Asn Disease - - Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165 non-pleiotropic VAR_038800 p.Arg198Gln Disease - - Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165 non-pleiotropic VAR_070021 p.Asp67Gly Disease - - Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165 non-pleiotropic VAR_070022 p.Arg76Cys Disease - - Cataract 1, multiple types (CTRCT1) [MIM:116200]
P48165 non-pleiotropic VAR_037642 p.Val64Gly Disease - - Cataract 1, multiple types (CTRCT1) [MIM:116200]
P29033 pleiotropic VAR_008710 p.Asp66His Disease - - Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]
Vohwinkel syndrome (VS) [MIM:124500]
P29033 pleiotropic VAR_008709 p.Trp44Cys Disease - - Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033 pleiotropic VAR_015941 p.Asp159Val Disease rs28931592 - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_015944 p.Cys202Phe Disease - - Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033 pleiotropic VAR_015938 p.Ile111Thr Non-Disease - - -
P29033 pleiotropic VAR_015456 p.Asp50Asn Disease rs28931594 - Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540]
Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
P29033 pleiotropic VAR_002143 p.Val84Leu Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_015453 p.Gly12Arg Disease - - Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
P29033 pleiotropic VAR_023605 p.Arg32His Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_023615 p.Ala197Ser Disease - - Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033 pleiotropic VAR_002142 p.Phe83Leu Non-Disease rs111033218 0.0014 -
P29033 pleiotropic VAR_032750 p.Asn54Lys Disease - - Bart-Pumphrey syndrome (BPS) [MIM:149200]
P29033 pleiotropic VAR_002145 p.Ser113Arg Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_023609 p.Met93Ile Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_016839 p.Arg32Leu Non-Disease - - -
P29033 pleiotropic VAR_015935 p.Asp50Tyr Disease - - Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
P29033 pleiotropic VAR_060800 p.Val84Met Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]