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 182 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q86XE5 non-pleiotropic VAR_064035 p.Cys257Gly Disease - - Hyperoxaluria primary 3 (HP3) [MIM:613616]
Q86XE5 non-pleiotropic VAR_064036 p.Gly287Val Disease - - Hyperoxaluria primary 3 (HP3) [MIM:613616]
P31271 pleiotropic VAR_017776 p.Asn372His Disease - - Hand-foot-genital syndrome (HFG) [MIM:140000]
P31271 pleiotropic VAR_017775 p.Gln371Leu Disease - - Guttmacher syndrome (GUTTS) [MIM:176305]
O43364 non-pleiotropic VAR_011880 p.Met196Leu Non-Disease rs941002 - -
O43364 non-pleiotropic VAR_048023 p.Gln186Lys Disease - - Microtia, hearing impairment, and cleft palate (MHICP) [MIM:612290]
P14653 non-pleiotropic VAR_068723 p.Arg207Cys Disease - - Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744]
P14653 non-pleiotropic VAR_058129 p.Glu265Gly Non-Disease rs7226137 0.0129 -
P14653 non-pleiotropic VAR_055959 p.Thr71Asn Non-Disease rs35254561 - -
P14653 non-pleiotropic VAR_055960 p.Gln103His Non-Disease rs12939811 0.1139 -
P35453 pleiotropic VAR_031651 p.Arg306Trp Disease rs28933082 - Synpolydactyly 1 (SPD1) [MIM:186000]
P35453 pleiotropic VAR_031650 p.Ser252Ala Non-Disease rs35290213 - -
P35453 pleiotropic VAR_015952 p.Ser316Cys Disease rs28928892 - Brachydactyly D (BDD) [MIM:113200]
Brachydactyly E1 (BDE1) [MIM:113300]
P35453 pleiotropic VAR_031652 p.Gln325Arg Disease - - Syndactyly 5 (SDTY5) [MIM:186300]
P35453 pleiotropic VAR_015953 p.Ile322Leu Disease rs28928891 - Brachydactyly E1 (BDE1) [MIM:113300]
P15428 pleiotropic VAR_046209 p.Ala140Pro Disease - - Cranioosteoarthropathy (COA) [MIM:259100]
P15428 pleiotropic VAR_006972 p.Tyr217Cys Non-Disease - - -
P15428 pleiotropic VAR_060792 p.Ser193Pro Disease - - Isolated congenital nail clubbing (ICNC) [MIM:119900]
Q969F9 non-pleiotropic VAR_038379 p.Glu275Lys Non-Disease rs34388030 0.0069 -
Q969F9 non-pleiotropic VAR_013251 p.Arg397Trp Disease - - Hermansky-Pudlak syndrome 3 (HPS3) [MIM:614072]
Q9UPZ3 non-pleiotropic VAR_062286 p.Thr1098Ile Disease rs61884288 0.0104 Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]
Q9UPZ3 non-pleiotropic VAR_062285 p.Leu624Arg Disease - - Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]
Q9UPZ3 non-pleiotropic VAR_015513 p.Leu417Met Non-Disease rs7128017 0.141 -
P01112 pleiotropic VAR_026106 p.Gly12Ala Disease - - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_068817 p.Gly13Arg Disease - - Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200]
P01112 pleiotropic VAR_045976 p.Gly12Glu Disease - - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_026108 p.Gly13Asp Disease - - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_006836 p.Gly12Val Disease - - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_006837 p.Gly12Ser Disease - - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_026107 p.Gly13Cys Disease - - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_045982 p.Ala146Thr Disease - - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_045977 p.Gln22Lys Disease - - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
P01112 pleiotropic VAR_045975 p.Gly12Cys Disease - - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_045983 p.Ala146Val Disease - - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_045978 p.Thr58Ile Disease - - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_045981 p.Lys117Arg Disease - - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_068816 p.Gly12Asp Disease - - Faciocutaneoskeletal syndrome (FCSS) [MIM:218040]
P01112 pleiotropic VAR_045980 p.Glu63Lys Disease - - Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040]
O60243 non-pleiotropic VAR_069287 p.Met404Val Disease - - Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
O60243 non-pleiotropic VAR_069284 p.Arg306Trp Disease - - Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
O60243 non-pleiotropic VAR_069286 p.Arg382Trp Disease - - Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
O60243 non-pleiotropic VAR_069285 p.Arg323Gln Disease - - Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
O60243 non-pleiotropic VAR_069283 p.Arg306Gln Disease - - Hypogonadotropic hypogonadism 15 with or without anosmia (HH15) [MIM:614880]
P80365 non-pleiotropic VAR_015644 p.Arg279Cys Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_006959 p.Arg213Cys Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_015645 p.Ala328Val Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_015637 p.Arg186Cys Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_015641 p.Asp244Asn Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_006958 p.Arg208Cys Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]
P80365 non-pleiotropic VAR_066514 p.Asp223Asn Disease - - Apparent mineralocorticoid excess (AME) [MIM:218030]