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 91 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P50416 non-pleiotropic VAR_046769 p.Gly465Trp Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P50416 non-pleiotropic VAR_020550 p.Arg357Trp Disease - - Carnitine palmitoyltransferase 1A deficiency (CPT1AD) [MIM:255120]
P78560 non-pleiotropic VAR_067536 p.Gly128Arg Disease - - Mental retardation, autosomal recessive 34 (MRT34) [MIM:614499]
Q92793 non-pleiotropic VAR_035080 p.Glu1278Lys Disease - - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793 non-pleiotropic VAR_037305 p.Tyr1175Cys Disease rs28937315 - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793 non-pleiotropic VAR_035081 p.Thr1447Ile Disease - - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793 non-pleiotropic VAR_035083 p.His1470Arg Disease - - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793 non-pleiotropic VAR_035082 p.Tyr1450His Disease - - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793 non-pleiotropic VAR_027953 p.Val1414Ile Non-Disease rs130015 - -
Q92793 non-pleiotropic VAR_035084 p.Arg1664His Disease - - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
Q92793 non-pleiotropic VAR_015578 p.Arg1378Pro Disease - - Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849]
O75462 non-pleiotropic VAR_033113 p.Trp76Gly Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070822 p.Ser145Pro Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070819 p.Asn113Ile Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070827 p.Arg340Cys Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070820 p.Leu114Pro Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070817 p.Leu74Pro Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_028355 p.Arg176Lys Non-Disease rs11672248 - -
O75462 non-pleiotropic VAR_017865 p.Arg81His Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_017866 p.Leu374Arg Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070821 p.Pro138Leu Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070825 p.Trp284Cys Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070826 p.Arg312Pro Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070823 p.Arg216Cys Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070818 p.Tyr75Asp Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75462 non-pleiotropic VAR_070824 p.Phe268Ser Disease - - Cold-induced sweating syndrome 1 (CISS1) [MIM:272430]
O75718 non-pleiotropic VAR_063599 p.Ala13Glu Disease - - Osteogenesis imperfecta 7 (OI7) [MIM:610682]
O75718 non-pleiotropic VAR_032846 p.Glu137Asp Non-Disease rs17850371 - -
O75718 non-pleiotropic VAR_063600 p.Lys157Glu Disease - - Osteogenesis imperfecta 7 (OI7) [MIM:610682]
O75718 non-pleiotropic VAR_054442 p.Leu67Pro Disease - - Osteogenesis imperfecta 7 (OI7) [MIM:610682]
O75718 non-pleiotropic VAR_053050 p.Leu261Val Non-Disease rs1135127 0.2935 -
P02489 non-pleiotropic VAR_038375 p.Arg49Cys Disease - - Cataract 9, multiple types (CTRCT9) [MIM:604219]
P02489 non-pleiotropic VAR_070032 p.Arg12Cys Disease - - Cataract 9, multiple types (CTRCT9) [MIM:604219]
P02489 non-pleiotropic VAR_003819 p.Arg116Cys Disease - - Cataract 9, multiple types (CTRCT9) [MIM:604219]
P02489 non-pleiotropic VAR_046892 p.Arg21Leu Disease - - Cataract 9, multiple types (CTRCT9) [MIM:604219]
P02489 non-pleiotropic VAR_046893 p.Arg116His Disease - - Cataract 9, multiple types (CTRCT9) [MIM:604219]
P02511 pleiotropic VAR_070036 p.Arg157His Disease - - Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184]
P02511 pleiotropic VAR_014607 p.Ser41Tyr Non-Disease rs2234703 - -
P02511 pleiotropic VAR_070035 p.Gly154Ser Disease - - Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184]
P02511 pleiotropic VAR_069528 p.Asp109His Disease - - Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]
P02511 pleiotropic VAR_007899 p.Arg120Gly Disease rs28929489 - Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]
P02511 pleiotropic VAR_014608 p.Pro51Leu Non-Disease rs2234704 0.0009 -
P53673 non-pleiotropic VAR_014903 p.Thr84Met Non-Disease rs4277 - -
P53673 non-pleiotropic VAR_029528 p.Leu69Pro Disease - - Cataract 23 (CTRCT23) [MIM:610425]
P53673 non-pleiotropic VAR_029529 p.Phe94Ser Disease - - Cataract 23 (CTRCT23) [MIM:610425]
P53673 non-pleiotropic VAR_033824 p.Val36Met Non-Disease rs35520672 0.0129 -
P53674 non-pleiotropic VAR_070030 p.Val96Phe Disease - - Cataract 17, multiple types (CTRCT17) [MIM:611544]
P26998 non-pleiotropic VAR_025279 p.Val159Ile Non-Disease rs4455261 0.0096 -
P26998 non-pleiotropic VAR_025277 p.Arg105Gln Non-Disease rs17670506 0.0285 -
P26998 non-pleiotropic VAR_070031 p.Val194Glu Disease - - Cataract 22 (CTRCT22) [MIM:609741]