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 113 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P49961 non-pleiotropic VAR_022099 p.Val293Ile Non-Disease rs3793744 0.0216 -
P49961 non-pleiotropic VAR_071082 p.Gly210Arg Disease - - Spastic paraplegia 64, autosomal recessive (SPG64) [MIM:615683]
Q5NDL2 non-pleiotropic VAR_070090 p.Trp207Ser Disease - - Adams-Oliver syndrome 4 (AOS4) [MIM:615297]
Q5NDL2 non-pleiotropic VAR_070091 p.Arg377Gln Disease - - Adams-Oliver syndrome 4 (AOS4) [MIM:615297]
Q99814 non-pleiotropic VAR_067358 p.Pro534Leu Disease - - Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99814 non-pleiotropic VAR_061262 p.Pro785Thr Non-Disease rs61518065 0.0363 -
Q99814 non-pleiotropic VAR_042443 p.Gly537Trp Disease - - Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99814 non-pleiotropic VAR_067361 p.Gly537Arg Disease - - Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99814 non-pleiotropic VAR_067359 p.Met535Thr Disease - - Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99814 non-pleiotropic VAR_067360 p.Met535Val Disease - - Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q99814 non-pleiotropic VAR_061261 p.Thr766Pro Non-Disease rs59901247 0.1543 -
Q99814 non-pleiotropic VAR_067362 p.Phe540Leu Disease - - Erythrocytosis, familial, 4 (ECYT4) [MIM:611783]
Q9H4G0 non-pleiotropic VAR_066600 p.Pro854Ser Disease - - Mental retardation, autosomal dominant 11 (MRD11) [MIM:614257]
P16452 non-pleiotropic VAR_058100 p.Arg287Cys Disease - - Spherocytosis 5 (SPH5) [MIM:612690]
P16452 non-pleiotropic VAR_007482 p.Ala112Thr Disease rs28933988 - Spherocytosis 5 (SPH5) [MIM:612690]
P16452 non-pleiotropic VAR_058099 p.Asp145Tyr Disease - - Spherocytosis 5 (SPH5) [MIM:612690]
P16452 non-pleiotropic VAR_012268 p.Arg280Gln Disease - - Spherocytosis 5 (SPH5) [MIM:612690]
Q9HCE0 non-pleiotropic VAR_035279 p.Val1058Ala Non-Disease rs3744998 0.4867 -
Q9HCE0 non-pleiotropic VAR_035281 p.Ala1511Val Non-Disease rs1893523 0.287 -
Q9HCE0 non-pleiotropic VAR_035283 p.Arg1985Gln Non-Disease rs34674177 0.0129 -
Q9HCE0 non-pleiotropic VAR_069224 p.Gln336Arg Disease rs201757275 - Vici syndrome (VICIS) [MIM:242840]
Q9HCE0 non-pleiotropic VAR_062210 p.Lys182Glu Non-Disease rs59422275 0.0987 -
Q9HCE0 non-pleiotropic VAR_035278 p.Glu844Asp Non-Disease rs3744999 0.0592 -
Q9HCE0 non-pleiotropic VAR_035282 p.Ser1864Asn Non-Disease rs34064739 0.0358 -
Q9HCE0 non-pleiotropic VAR_035280 p.Ile1131Val Non-Disease rs3744997 0.0037 -
P29317 non-pleiotropic VAR_042121 p.Gly391Arg Non-Disease rs34192549 0.0179 -
P29317 non-pleiotropic VAR_062532 p.Arg721Gln Disease rs116506614 0.0002 Cataract 6, multiple types (CTRCT6) [MIM:116600]
P29317 non-pleiotropic VAR_042122 p.Thr511Met Non-Disease rs55747232 0.0073 -
P29317 non-pleiotropic VAR_058908 p.Gly948Trp Disease - - Cataract 6, multiple types (CTRCT6) [MIM:116600]
P29317 non-pleiotropic VAR_058907 p.Thr940Ile Disease - - Cataract 6, multiple types (CTRCT6) [MIM:116600]
P29317 non-pleiotropic VAR_055989 p.Lys99Asn Non-Disease rs1058372 - -
P29317 non-pleiotropic VAR_055990 p.Met631Thr Non-Disease rs34021505 0.0202 -
P29317 non-pleiotropic VAR_042123 p.Arg568His Non-Disease rs56198600 - -
P29317 non-pleiotropic VAR_042125 p.Arg876His Non-Disease rs35903225 0.0106 -
P29323 non-pleiotropic VAR_032857 p.Met883Val Disease - - Prostate cancer (PC) [MIM:176807]
P29323 non-pleiotropic VAR_032855 p.Val650Ala Disease rs142173175 0.0056 Prostate cancer (PC) [MIM:176807]
P29323 non-pleiotropic VAR_032856 p.His679Asn Disease - - Prostate cancer (PC) [MIM:176807]
P29323 non-pleiotropic VAR_042174 p.Asp678Asn Non-Disease rs28936395 0.0023 -
P29323 non-pleiotropic VAR_032854 p.Ala279Ser Disease rs35882952 0.0024 Prostate cancer (PC) [MIM:176807]
P29323 non-pleiotropic VAR_042175 p.Arg844Trp Non-Disease rs55826626 - -
P29323 non-pleiotropic VAR_042172 p.Cys289Gly Non-Disease - - -
P29323 non-pleiotropic VAR_032858 p.Ile909Met Disease - - Prostate cancer (PC) [MIM:176807]
P29323 non-pleiotropic VAR_032853 p.Arg199His Disease - - Prostate cancer (PC) [MIM:176807]
P29323 non-pleiotropic VAR_042173 p.Ile361Val Non-Disease rs56180036 0.0009 -
O95278 non-pleiotropic VAR_019467 p.Trp32Gly Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019472 p.Arg108Cys Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019471 p.Arg91Pro Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019470 p.Phe88Leu Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019474 p.Arg171His Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019481 p.Pro301Leu Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]