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 260 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P08235 pleiotropic VAR_029311 p.Phe826Tyr Non-Disease rs13306592 - -
P08235 pleiotropic VAR_031277 p.Ser818Leu Disease - - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235 pleiotropic VAR_015626 p.Ser810Leu Disease rs41511344 - Early-onset hypertension with severe exacerbation in pregnancy (EOHSEP) [MIM:605115]
P08235 pleiotropic VAR_014623 p.Ile180Val Non-Disease rs5522 0.108 -
P08235 pleiotropic VAR_014626 p.Asn554Ser Non-Disease rs5527 0.011 -
P08235 pleiotropic VAR_031273 p.Asn770Lys Disease - - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235 pleiotropic VAR_031269 p.Cys645Ser Disease - - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235 pleiotropic VAR_014625 p.Arg537Gln Non-Disease rs5526 - -
P08235 pleiotropic VAR_031274 p.Gln776Arg Disease - - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235 pleiotropic VAR_015627 p.Leu924Pro Disease - - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235 pleiotropic VAR_031279 p.Leu979Pro Disease - - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235 pleiotropic VAR_031278 p.Glu972Gly Disease - - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235 pleiotropic VAR_014624 p.Asn444Thr Non-Disease rs5523 0.0037 -
P08235 pleiotropic VAR_031268 p.Gly633Arg Disease - - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235 pleiotropic VAR_031272 p.Leu769Pro Disease - - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P08235 pleiotropic VAR_031270 p.Arg659Ser Disease - - Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735]
P01111 pleiotropic VAR_063086 p.Gly60Glu Disease - - Noonan syndrome 6 (NS6) [MIM:613224]
P01111 pleiotropic VAR_063085 p.Thr50Ile Disease - - Noonan syndrome 6 (NS6) [MIM:613224]
P01111 pleiotropic VAR_063084 p.Gly13Asp Disease - - Autoimmune lymphoproliferative syndrome 4 (ALPS4) [MIM:614470]
Q6X4W1 non-pleiotropic VAR_059699 p.Leu511Val Non-Disease rs34177733 - -
Q6X4W1 non-pleiotropic VAR_069967 p.Arg196His Disease - - Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838]
Q6X4W1 non-pleiotropic VAR_023003 p.Thr480Ala Disease - - Hypogonadotropic hypogonadism 9 with or without anosmia (HH9) [MIM:614838]
Q08J23 non-pleiotropic VAR_068530 p.Gly679Arg Disease - - Mental retardation, autosomal recessive 5 (MRT5) [MIM:611091]
Q08J23 non-pleiotropic VAR_032604 p.Val627Ile Non-Disease rs2303708 0.0234 -
Q9H0P0 non-pleiotropic VAR_023512 p.Leu181Pro Disease - - P5N deficiency (P5ND) [MIM:266120]
Q9H0P0 non-pleiotropic VAR_023511 p.Asp137Val Disease - - P5N deficiency (P5ND) [MIM:266120]
Q9H0P0 non-pleiotropic VAR_023513 p.Asn229Ser Disease - - P5N deficiency (P5ND) [MIM:266120]
Q9H0P0 non-pleiotropic VAR_023514 p.Gly280Arg Disease - - P5N deficiency (P5ND) [MIM:266120]
P21589 non-pleiotropic VAR_048103 p.Met379Thr Non-Disease rs2229524 0.1558 -
P21589 non-pleiotropic VAR_065185 p.Cys358Tyr Disease - - Calcification of joints and arteries (CALJA) [MIM:211800]
P21589 non-pleiotropic VAR_022091 p.Thr376Ala Non-Disease rs2229523 0.242 -
Q16620 non-pleiotropic VAR_016320 p.Gly309Arg Non-Disease - - -
Q16620 non-pleiotropic VAR_011973 p.Asn338Tyr Non-Disease rs1047856 - -
Q16620 non-pleiotropic VAR_049715 p.Gly545Val Non-Disease rs1075108 - -
Q16620 non-pleiotropic VAR_065890 p.Tyr706Cys Disease - - Obesity hyperphagia and developmental delay (OHPDD) [MIM:613886]
Q8TB37 non-pleiotropic VAR_069767 p.Asp105Tyr Disease - - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
Q8TB37 non-pleiotropic VAR_069768 p.Leu193Phe Disease - - Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]
Q8TB37 non-pleiotropic VAR_027895 p.Asn198Thr Non-Disease rs17855507 0.0014 -
P37198 non-pleiotropic VAR_034904 p.Gln391Pro Disease - - Infantile striatonigral degeneration (SNDI) [MIM:271930]
P37198 non-pleiotropic VAR_028065 p.Ser283Thr Non-Disease rs1062798 0.3163 -
P37198 non-pleiotropic VAR_028064 p.Gly139Ser Non-Disease rs3745489 0.0528 -
P37198 non-pleiotropic VAR_013467 p.Ala233Ser Non-Disease rs2290772 0.0014 -
Q9GZU5 non-pleiotropic VAR_013872 p.Ala187Lys Disease - - Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5 non-pleiotropic VAR_013876 p.Asn264Lys Disease - - Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5 non-pleiotropic VAR_013881 p.Leu347Pro Disease - - Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5 non-pleiotropic VAR_013869 p.Pro151Leu Disease - - Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5 non-pleiotropic VAR_052020 p.Ala406Gly Non-Disease rs34169326 0.0054 -
Q9GZU5 non-pleiotropic VAR_013879 p.Leu307Pro Disease - - Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5 non-pleiotropic VAR_013877 p.Leu285Pro Disease - - Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]
Q9GZU5 non-pleiotropic VAR_013870 p.Pro175Arg Disease - - Night blindness, congenital stationary, 1A (CSNB1A) [MIM:310500]