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 103 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9UPY3 pleiotropic VAR_063150 p.Leu1583Arg Disease - - Pleuropulmonary blastoma (PPB) [MIM:601200]
Q8IYB7 non-pleiotropic VAR_067578 p.Cys489Tyr Disease - - Perlman syndrome (PRLMNS) [MIM:267000]
Q8IYB7 non-pleiotropic VAR_038059 p.Pro12Ser Non-Disease rs723044 0.0643 -
P09622 non-pleiotropic VAR_006907 p.Lys72Glu Disease - - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622 non-pleiotropic VAR_031922 p.Lys104Thr Non-Disease rs1130477 - -
P09622 non-pleiotropic VAR_014555 p.Leu331Val Non-Disease rs17624 - -
P09622 non-pleiotropic VAR_006908 p.Pro488Leu Disease - - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622 non-pleiotropic VAR_015820 p.Gly229Cys Disease - - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
P09622 non-pleiotropic VAR_015821 p.Arg495Gly Disease - - Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
Q9NYJ7 non-pleiotropic VAR_046782 p.Ala115Thr Non-Disease - - -
Q9NYJ7 non-pleiotropic VAR_046783 p.Leu142Gln Non-Disease rs55741253 0.0436 -
Q9NYJ7 non-pleiotropic VAR_009952 p.Gly385Asp Disease - - Spondylocostal dysostosis 1, autosomal recessive (SCDO1) [MIM:277300]
Q9NYJ7 non-pleiotropic VAR_046784 p.Phe172Cys Non-Disease rs8107127 0.2415 -
Q9NYJ7 non-pleiotropic VAR_016776 p.Leu218Pro Non-Disease rs1110627 0.37 -
P56178 non-pleiotropic VAR_033874 p.Ser234Arg Non-Disease rs35273378 0.0009 -
P56178 non-pleiotropic VAR_067413 p.Gln178Pro Disease - - Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive (SHFM1D) [MIM:220600]
P11532 pleiotropic VAR_057647 p.Arg2108Cys Non-Disease rs16990169 0.0132 -
P11532 pleiotropic VAR_005160 p.Lys1377Asn Non-Disease rs1800263 - -
P11532 pleiotropic VAR_023539 p.Ala171Pro Disease - - Becker muscular dystrophy (BMD) [MIM:300376]
P11532 pleiotropic VAR_057645 p.Thr1136Ser Non-Disease rs3827462 0.017 -
P11532 pleiotropic VAR_005172 p.Ala3421Val Disease - - Becker muscular dystrophy (BMD) [MIM:300376]
P11532 pleiotropic VAR_023544 p.Phe3228Leu Disease - - Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]
P11532 pleiotropic VAR_005155 p.Ala784Gly Non-Disease rs1800260 - -
P11532 pleiotropic VAR_023540 p.Thr279Ala Disease - - Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]
P11532 pleiotropic VAR_023545 p.Cys3313Phe Disease - - Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532 pleiotropic VAR_005169 p.Asn2912Asp Non-Disease rs1800278 0.0371 -
P11532 pleiotropic VAR_005167 p.Lys2366Gln Non-Disease rs1800275 0.1833 -
P11532 pleiotropic VAR_005148 p.Gln133Pro Non-Disease rs1800256 - -
P11532 pleiotropic VAR_023541 p.Asp645Gly Disease - - Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532 pleiotropic VAR_005154 p.Lys773Glu Disease - - Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532 pleiotropic VAR_023543 p.Asn2299Thr Non-Disease - - -
P11532 pleiotropic VAR_005151 p.Gln365His Non-Disease rs1800266 - -
P11532 pleiotropic VAR_005165 p.Arg2191Trp Non-Disease - - -
P11532 pleiotropic VAR_005168 p.Glu2910Val Non-Disease rs41305353 0.0358 -
P11532 pleiotropic VAR_005161 p.Gln1469Leu Non-Disease rs1057872 - -
P11532 pleiotropic VAR_005150 p.Tyr231Asn Disease - - Becker muscular dystrophy (BMD) [MIM:300376]
P11532 pleiotropic VAR_005162 p.Arg1745His Non-Disease rs1801187 0.4652 -
P11532 pleiotropic VAR_005159 p.Ala1278Pro Non-Disease rs1800270 - -
P11532 pleiotropic VAR_057642 p.Thr409Ser Non-Disease rs34155804 0.0085 -
P11532 pleiotropic VAR_005164 p.Arg2155Trp Non-Disease rs1800273 0.013 -
P11532 pleiotropic VAR_057643 p.Ala573Val Non-Disease rs5972599 0.005 -
P11532 pleiotropic VAR_023547 p.Cys3340Tyr Disease - - Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532 pleiotropic VAR_023546 p.Asp3335His Disease - - Duchenne muscular dystrophy (DMD) [MIM:310200]
P11532 pleiotropic VAR_005171 p.Gln2937Arg Non-Disease rs1800280 0.1181 -
P11532 pleiotropic VAR_005170 p.His2921Arg Disease rs1800279 0.0148 Becker muscular dystrophy (BMD) [MIM:300376]
P11532 pleiotropic VAR_005153 p.Leu623Ile Non-Disease rs1800259 - -
P11532 pleiotropic VAR_005156 p.Asp882Gly Non-Disease rs228406 0.2517 -
P11532 pleiotropic VAR_057646 p.Phe1388Val Non-Disease rs28715870 0.0281 -
P11532 pleiotropic VAR_023537 p.Lys18Asn Disease - - Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]
P11532 pleiotropic VAR_023542 p.Asn1672Lys Disease rs16990264 0.023 Cardiomyopathy, dilated, X-linked 3B (CMD3B) [MIM:302045]