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 75 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q969X6 non-pleiotropic VAR_017445 p.Arg565Trp Disease rs119465999 0.0018 North American Indian childhood cirrhosis (NAIC) [MIM:604901]
Q9UBD9 non-pleiotropic VAR_028354 p.Arg197Leu Disease - - Cold-induced sweating syndrome 2 (CISS2) [MIM:610313]
P51800 non-pleiotropic VAR_059209 p.Arg534Trp Non-Disease rs12140223 0.0528 -
P51800 non-pleiotropic VAR_030784 p.Met67Ile Non-Disease rs17855678 - -
P51800 non-pleiotropic VAR_019788 p.Tyr315Phe Non-Disease rs12126269 0.1823 -
P51800 non-pleiotropic VAR_063074 p.Trp80Cys Disease - - Bartter syndrome 4B (BS4B) [MIM:613090]
P51800 non-pleiotropic VAR_019787 p.Arg83Gly Non-Disease rs10927887 0.3751 -
P51800 non-pleiotropic VAR_014465 p.Ala447Thr Non-Disease rs1805152 0.3673 -
P51800 non-pleiotropic VAR_033769 p.Ala287Val Non-Disease rs34188929 - -
P51800 non-pleiotropic VAR_048695 p.Arg8His Non-Disease rs9442189 0.0096 -
P51800 non-pleiotropic VAR_061095 p.Pro683Leu Non-Disease rs12746751 0.0588 -
P51800 non-pleiotropic VAR_068971 p.His357Gln Non-Disease rs79751787 0.0684 -
P51800 non-pleiotropic VAR_033768 p.Arg45His Non-Disease rs35932996 0.0032 -
O95500 non-pleiotropic VAR_017227 p.Thr4Met Non-Disease rs113831133 0.0326 -
O95500 non-pleiotropic VAR_069982 p.Ala94Val Disease - - Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]
O95500 non-pleiotropic VAR_069979 p.Arg81His Disease - - Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]
O95500 non-pleiotropic VAR_069980 p.Ile86Val Non-Disease - - -
O95500 non-pleiotropic VAR_069981 p.Ser87Ile Disease - - Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]
O95500 non-pleiotropic VAR_069983 p.Gly232Arg Disease - - Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]
O95500 non-pleiotropic VAR_010738 p.Val85Asp Disease - - Deafness, autosomal recessive, 29 (DFNB29) [MIM:614035]
Q9Y5I7 non-pleiotropic VAR_017234 p.Gly198Ala Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_008172 p.Gly239Arg Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_017232 p.Leu151Pro Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_017229 p.Leu145Pro Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_008176 p.Gly198Asp Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_017231 p.Leu151Phe Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_008178 p.Gly233Asp Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_017230 p.Arg149Leu Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_008177 p.Phe232Cys Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_008175 p.Gly191Arg Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_008173 p.Met71Arg Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_008179 p.Ser235Phe Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_017237 p.Ser235Pro Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_017235 p.Ala209Thr Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_008174 p.Leu167Pro Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_017236 p.Arg216Thr Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_017233 p.Leu151Trp Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q9Y5I7 non-pleiotropic VAR_017228 p.His141Asp Disease - - Hypomagnesemia 3 (HOMG3) [MIM:248250]
Q8N6F1 non-pleiotropic VAR_031241 p.Leu90Pro Disease - - Hypomagnesemia 5 (HOMG5) [MIM:248190]
Q8N6F1 non-pleiotropic VAR_031240 p.Gln57Glu Disease - - Hypomagnesemia 5 (HOMG5) [MIM:248190]
Q8N6F1 non-pleiotropic VAR_031239 p.Gly20Asp Disease - - Hypomagnesemia 5 (HOMG5) [MIM:248190]
Q8N6F1 non-pleiotropic VAR_031238 p.Leu13Phe Non-Disease rs12065961 0.0087 -
O15247 non-pleiotropic VAR_068898 p.His101Gln Disease - - Mental retardation, X-linked, syndromic, 32 (MRXS32) [MIM:300886]
Q9H6B4 non-pleiotropic VAR_049824 p.Arg69His Non-Disease rs2276348 0.0583 -
Q9H6B4 non-pleiotropic VAR_069713 p.Val124Asp Disease - - Congenital short bowel syndrome (CSBS) [MIM:615237]
Q13286 non-pleiotropic VAR_066894 p.Gly189Arg Disease - - Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286 non-pleiotropic VAR_005134 p.Val330Phe Disease - - Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286 non-pleiotropic VAR_066892 p.Cys134Arg Disease - - Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286 non-pleiotropic VAR_005135 p.Arg334Cys Disease - - Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]
Q13286 non-pleiotropic VAR_005133 p.Glu295Lys Disease - - Ceroid lipofuscinosis, neuronal, 3 (CLN3) [MIM:204200]