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 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 - -