Found 7392 SAVs (36.7 %)from pleiotropic protein and 12743 SAVs (63.3 %) from non-pleiotropic protein.
15222 disease SAVs (75.6 %) and 4913 non-disease (24.4 %).
20135 items found (page 49 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q9HAY6 | non-pleiotropic | VAR_048407 | p.Ala379Val | Non-Disease | rs7501331 | 0.1621 | - |
Q9HAY6 | non-pleiotropic | VAR_058112 | p.Thr170Met | Disease | rs119478057 | 0.0004 | Hypercarotenemia and vitamin A deficiency, autosomal dominant (ADHVAD) [MIM:115300] |
Q9HAY6 | non-pleiotropic | VAR_048406 | p.Arg267Ser | Non-Disease | rs12934922 | 0.2691 | - |
Q6W2J9 | non-pleiotropic | VAR_020921 | p.Pro85Leu | Disease | rs28935183 | - | Microphthalmia, syndromic, 2 (MCOPS2) [MIM:300166] |
Q13515 | non-pleiotropic | VAR_012164 | p.Arg287Trp | Disease | - | - | Cataract 12, multiple types (CTRCT12) [MIM:611597] |
Q9H694 | non-pleiotropic | VAR_066759 | p.Asn711Thr | Non-Disease | rs138916713 | 0.0073 | - |
Q9H694 | non-pleiotropic | VAR_029658 | p.Gly8Asp | Non-Disease | rs7905025 | - | - |
Q9H694 | non-pleiotropic | VAR_066760 | p.Glu932Gly | Disease | - | - | Renal dysplasia, cystic (CYSRD) [MIM:601331] |
Q9H694 | non-pleiotropic | VAR_060133 | p.Asn945Ser | Non-Disease | rs7895817 | 0.0216 | - |
Q9H694 | non-pleiotropic | VAR_033542 | p.Ser943Pro | Non-Disease | rs4948550 | 0.3641 | - |
Q8TD16 | non-pleiotropic | VAR_070114 | p.Ile189Phe | Disease | - | - | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] |
Q8TD16 | non-pleiotropic | VAR_070111 | p.Lys90Arg | Non-Disease | rs61754130 | 0.0009 | - |
Q8TD16 | non-pleiotropic | VAR_070113 | p.Asn188Thr | Disease | - | - | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] |
Q8TD16 | non-pleiotropic | VAR_070116 | p.Lys508Thr | Disease | - | - | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] |
Q8TD16 | non-pleiotropic | VAR_070117 | p.Thr703Met | Disease | - | - | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] |
Q8TD16 | non-pleiotropic | VAR_070115 | p.Arg501Pro | Disease | - | - | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] |
Q8TD16 | non-pleiotropic | VAR_070118 | p.Glu774Gly | Disease | - | - | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] |
Q8TD16 | non-pleiotropic | VAR_070112 | p.Ser107Leu | Disease | - | - | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM:615290] |
O00499 | non-pleiotropic | VAR_037426 | p.Asp151Asn | Disease | - | - | Myopathy, centronuclear, 2 (CNM2) [MIM:255200] |
O00499 | non-pleiotropic | VAR_037425 | p.Lys35Asn | Disease | - | - | Myopathy, centronuclear, 2 (CNM2) [MIM:255200] |
P54132 | non-pleiotropic | VAR_009138 | p.Gly891Glu | Disease | - | - | Bloom syndrome (BLM) [MIM:210900] |
P54132 | non-pleiotropic | VAR_022297 | p.Arg591Gln | Non-Disease | rs28385012 | 0.0005 | - |
P54132 | non-pleiotropic | VAR_051731 | p.Ala1043Asp | Non-Disease | rs2229035 | 0.0014 | - |
P54132 | non-pleiotropic | VAR_022300 | p.Glu1213Lys | Non-Disease | rs28385142 | - | - |
P54132 | non-pleiotropic | VAR_016032 | p.Ile841Thr | Disease | - | - | Bloom syndrome (BLM) [MIM:210900] |
P54132 | non-pleiotropic | VAR_006903 | p.Cys1055Ser | Disease | - | - | Bloom syndrome (BLM) [MIM:210900] |
P54132 | non-pleiotropic | VAR_022301 | p.Val1321Ile | Non-Disease | rs7167216 | 0.067 | - |
P54132 | non-pleiotropic | VAR_016033 | p.Cys878Arg | Disease | - | - | Bloom syndrome (BLM) [MIM:210900] |
P54132 | non-pleiotropic | VAR_022298 | p.Pro868Leu | Non-Disease | rs11852361 | 0.0533 | - |
P54132 | non-pleiotropic | VAR_014912 | p.Ser1209Thr | Non-Disease | rs1801256 | - | - |
P54132 | non-pleiotropic | VAR_022299 | p.Val1205Ile | Non-Disease | rs28385141 | 0.0023 | - |
P54132 | non-pleiotropic | VAR_009140 | p.Cys1036Phe | Disease | - | - | Bloom syndrome (BLM) [MIM:210900] |
P54132 | non-pleiotropic | VAR_022296 | p.Thr298Met | Non-Disease | rs28384991 | 0.0202 | - |
P54132 | non-pleiotropic | VAR_006901 | p.Gln672Arg | Disease | - | - | Bloom syndrome (BLM) [MIM:210900] |
P54132 | non-pleiotropic | VAR_006902 | p.Thr843Ile | Disease | - | - | Bloom syndrome (BLM) [MIM:210900] |
P54132 | non-pleiotropic | VAR_022295 | p.Lys137Arg | Non-Disease | rs28384988 | 0.0037 | - |
P54132 | non-pleiotropic | VAR_009139 | p.Cys901Tyr | Disease | - | - | Bloom syndrome (BLM) [MIM:210900] |
P13497 | non-pleiotropic | VAR_069096 | p.Gly12Arg | Disease | rs318240762 | - | Osteogenesis imperfecta 13 (OI13) [MIM:614856] |
P13497 | non-pleiotropic | VAR_051584 | p.Val719Ile | Non-Disease | rs11996036 | 0.0478 | - |
P13497 | non-pleiotropic | VAR_067224 | p.Phe249Leu | Disease | - | - | Osteogenesis imperfecta 13 (OI13) [MIM:614856] |
Q8N8U9 | non-pleiotropic | VAR_028166 | p.Arg555Trp | Non-Disease | rs10249320 | 0.0041 | - |
Q8N8U9 | non-pleiotropic | VAR_065823 | p.Pro370Leu | Disease | - | - | Diaphanospondylodysostosis (DSD) [MIM:608022] |
P07738 | non-pleiotropic | VAR_065367 | p.Arg62Gln | Disease | - | - | Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] |
P07738 | non-pleiotropic | VAR_065368 | p.Arg90Cys | Disease | - | - | Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800] |
Q9BX63 | pleiotropic | VAR_023701 | p.Arg264Trp | Non-Disease | rs28997569 | 0.0014 | - |
Q9BX63 | pleiotropic | VAR_020899 | p.Leu195Pro | Non-Disease | rs4988347 | 0.0009 | - |
Q9BX63 | pleiotropic | VAR_020897 | p.Arg173Cys | Non-Disease | rs4988345 | 0.0032 | - |
Q9BX63 | pleiotropic | VAR_020904 | p.Cys832Tyr | Non-Disease | rs4988355 | - | - |
Q9BX63 | pleiotropic | VAR_020896 | p.Pro47Ala | Disease | rs28903098 | - | Breast cancer (BC) [MIM:114480] |
Q9BX63 | pleiotropic | VAR_052193 | p.Asp1148Glu | Non-Disease | rs28997573 | - | - |