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 192 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P01308 pleiotropic VAR_063726 p.Gly32Ser Disease rs80356664 - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308 pleiotropic VAR_063731 p.Phe48Cys Disease rs80356668 - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308 pleiotropic VAR_063737 p.Cys96Ser Disease rs80356671 - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308 pleiotropic VAR_063725 p.Gly32Arg Disease rs80356664 - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308 pleiotropic VAR_063721 p.Arg6Cys Disease rs121908278 - Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370]
P01308 pleiotropic VAR_063729 p.Arg46Gln Disease rs121908260 - Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370]
P01308 pleiotropic VAR_063740 p.Tyr103Cys Disease rs121908277 - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308 pleiotropic VAR_063735 p.Arg89Cys Disease rs80356669 - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308 pleiotropic VAR_063739 p.Ser101Cys Disease rs121908276 - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P01308 pleiotropic VAR_063727 p.Leu35Pro Disease rs121908273 - Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176]
P51460 non-pleiotropic VAR_013237 p.Arg102His Non-Disease - - -
P51460 non-pleiotropic VAR_013232 p.Val43Leu Non-Disease - - -
P51460 non-pleiotropic VAR_013236 p.Arg102Cys Disease - - Cryptorchidism (CRYPTO) [MIM:219050]
P51460 non-pleiotropic VAR_013231 p.Ala24Gly Non-Disease rs186828508 0.0009 -
P51460 non-pleiotropic VAR_013234 p.Thr60Ala Non-Disease rs6523 0.3118 -
P51460 non-pleiotropic VAR_013233 p.Pro49Ser Non-Disease - - -
P51460 non-pleiotropic VAR_017122 p.Asn110Lys Disease - - Cryptorchidism (CRYPTO) [MIM:219050]
P51460 non-pleiotropic VAR_013235 p.Pro93Leu Disease rs104894697 0.0002 Cryptorchidism (CRYPTO) [MIM:219050]
P06213 pleiotropic VAR_015921 p.Pro997Thr Disease - - Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213 pleiotropic VAR_004087 p.Phe409Val Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_015934 p.Arg1378Gln Disease rs52826008 0.001 Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_015922 p.Ile1023Phe Non-Disease - - -
P06213 pleiotropic VAR_004090 p.Arg762Ser Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_015925 p.Arg1119Trp Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_041430 p.Gln695Arg Non-Disease rs55906835 - -
P06213 pleiotropic VAR_004099 p.Pro1205Leu Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_031519 p.Arg279His Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_058395 p.Ala2Gly Non-Disease rs7508518 0.1102 -
P06213 pleiotropic VAR_041433 p.Thr1282Ala Non-Disease rs55875349 - -
P06213 pleiotropic VAR_015931 p.Glu1206Asp Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_004088 p.Lys487Glu Disease rs28933083 - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_041431 p.Gly811Ser Non-Disease rs35045353 - -
P06213 pleiotropic VAR_004093 p.Gly1035Val Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_004098 p.Arg1191Gln Disease - - Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853]
P06213 pleiotropic VAR_015926 p.Ile1143Thr Disease - - Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213 pleiotropic VAR_004086 p.Gly393Arg Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_004101 p.Trp1227Ser Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_015914 p.Ser350Leu Disease - - Leprechaunism (LEPRCH) [MIM:246200]
Rabson-Mendenhall syndrome (RMS) [MIM:262190]
P06213 pleiotropic VAR_004092 p.Arg1020Gln Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_055986 p.Pro830Leu Non-Disease rs2162771 - -
P06213 pleiotropic VAR_015920 p.Thr937Met Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_015923 p.Ala1055Val Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_015929 p.Arg1201Gln Disease rs28933086 - Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968]
Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_015911 p.Cys280Tyr Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_015915 p.Ile448Thr Non-Disease rs1051691 - -
P06213 pleiotropic VAR_015909 p.Ala119Val Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_004080 p.Val55Ala Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_015540 p.Arg279Cys Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]
P06213 pleiotropic VAR_015539 p.Ile146Met Disease - - Leprechaunism (LEPRCH) [MIM:246200]
P06213 pleiotropic VAR_015908 p.Leu89Pro Disease - - Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549]