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 50 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9BX63 pleiotropic VAR_023700 p.Gln255His Disease - - Fanconi anemia complementation group J (FANCJ) [MIM:609054]
Q9BX63 pleiotropic VAR_020900 p.Met299Ile Disease - - Breast cancer (BC) [MIM:114480]
Q9BX63 pleiotropic VAR_020906 p.Val935Gly Non-Disease rs4988356 - -
Q9BX63 pleiotropic VAR_023704 p.Arg707Cys Disease - - Fanconi anemia complementation group J (FANCJ) [MIM:609054]
Q9BX63 pleiotropic VAR_020898 p.Val193Ile Non-Disease rs4988346 0.0014 -
Q9BX63 pleiotropic VAR_020902 p.Phe531Val Non-Disease rs4988350 - -
Q9BX63 pleiotropic VAR_020901 p.Arg419Trp Non-Disease - - -
Q9BX63 pleiotropic VAR_023703 p.Trp647Cys Disease - - Fanconi anemia complementation group J (FANCJ) [MIM:609054]
Q9BX63 pleiotropic VAR_052192 p.Ile633Met Non-Disease rs28997572 - -
Q9BX63 pleiotropic VAR_020903 p.Gln540Leu Non-Disease rs4988349 - -
Q9BX63 pleiotropic VAR_023702 p.Ala349Pro Disease - - Fanconi anemia complementation group J (FANCJ) [MIM:609054]
Q9BX63 pleiotropic VAR_020905 p.Pro919Ser Non-Disease rs4986764 0.3722 -
Q6RI45 non-pleiotropic VAR_036940 p.Lys1596Glu Disease - - Mental retardation, X-linked 93 (MRX93) [MIM:300659]
Q6RI45 non-pleiotropic VAR_031491 p.Lys1288Arg Non-Disease rs3122407 0.0103 -
Q96G97 pleiotropic VAR_022375 p.Asn88Ser Disease - - Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]
Q96G97 pleiotropic VAR_022377 p.Ala212Pro Disease - - Congenital generalized lipodystrophy 2 (CGL2) [MIM:269700]
Q96G97 pleiotropic VAR_022376 p.Ser90Leu Disease - - Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
Spastic paraplegia 17, autosomal dominant (SPG17) [MIM:270685]
P43251 non-pleiotropic VAR_005118 p.Gly451Asp Disease - - Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251 non-pleiotropic VAR_005113 p.Phe128Val Disease - - Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251 non-pleiotropic VAR_005115 p.Asp228Tyr Disease - - Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251 non-pleiotropic VAR_005117 p.Asp444His Disease rs13078881 0.0186 Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251 non-pleiotropic VAR_005119 p.Gln456His Disease rs80338685 0.0002 Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251 non-pleiotropic VAR_005114 p.Ala171Thr Disease rs13073139 - Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251 non-pleiotropic VAR_005120 p.Thr532Met Disease rs104893688 0.0002 Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251 non-pleiotropic VAR_005121 p.Arg538Cys Disease - - Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251 non-pleiotropic VAR_005116 p.His323Arg Disease - - Biotinidase deficiency (BTD deficiency) [MIM:253260]
P43251 non-pleiotropic VAR_056238 p.Pro391Ser Non-Disease rs35034250 0.0087 -
Q99622 non-pleiotropic VAR_069774 p.Leu51Gln Disease - - Temtamy syndrome (TEMTYS) [MIM:218340]
Q9Y2V0 non-pleiotropic VAR_070876 p.Tyr94Cys Disease - - Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631]
Q9Y2V0 non-pleiotropic VAR_070877 p.Leu178Gln Disease - - Anemia, congenital dyserythropoietic, 1B (CDAN1B) [MIM:615631]
Q9Y2V0 non-pleiotropic VAR_059622 p.Leu73Val Non-Disease rs3784678 0.494 -
Q9NSK7 pleiotropic VAR_066622 p.Lys142Thr Non-Disease rs79915936 0.0317 -
Q9NSK7 pleiotropic VAR_066618 p.Gly53Arg Disease rs200133991 0.0002 Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_069760 p.Pro83Leu Disease rs201987973 - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_069757 p.Ala48Pro Disease - - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_069756 p.Ser39Phe Disease - - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_066620 p.Gly69Arg Disease - - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_069762 p.Leu121Gln Disease - - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_066617 p.Thr11Met Disease - - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_066619 p.Gly65Glu Disease - - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_069761 p.Arg98Ser Disease - - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_069759 p.Gly65Val Disease - - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_069758 p.Pro60Leu Disease - - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Q9NSK7 pleiotropic VAR_069764 p.Gln149Arg Non-Disease rs73023451 0.0005 -
Q9NSK7 pleiotropic VAR_070668 p.Ala63Pro Disease - - Neurodegeneration with brain iron accumulation 4 (NBIA4) [MIM:614298]
Spastic paraplegia 43, autosomal recessive (SPG43) [MIM:615043]
Q96EU7 non-pleiotropic VAR_031910 p.Asp131Glu Non-Disease rs17261572 0.1312 -
Q96EU7 non-pleiotropic VAR_069275 p.Ser193Pro Disease - - Tn polyagglutination syndrome (TNPS) [MIM:300622]
Q96EU7 non-pleiotropic VAR_069276 p.Gln222His Non-Disease rs200973382 0.0003 -
Q96EU7 non-pleiotropic VAR_069274 p.Ala143Val Non-Disease rs45557031 0.0121 -
Q96EU7 non-pleiotropic VAR_031911 p.Glu152Lys Disease rs137853599 - Tn polyagglutination syndrome (TNPS) [MIM:300622]