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 206 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9UH77 non-pleiotropic VAR_067522 p.Ser433Asn Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067505 p.Arg228Gly Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067524 p.Ala494Thr Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067526 p.Pro501Thr Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067525 p.Gly500Val Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067515 p.Ala398Val Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067512 p.Arg384Gln Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067518 p.Met427Thr Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067520 p.Ser432Asn Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067503 p.Glu85Ala Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q9UH77 non-pleiotropic VAR_067501 p.Ala77Glu Disease - - Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495]
Q2TBA0 non-pleiotropic VAR_069836 p.Asp34His Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_030215 p.Cys617Arg Non-Disease rs123509 0.1171 -
Q2TBA0 non-pleiotropic VAR_069841 p.Pro397Leu Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_030214 p.Asn345Ser Non-Disease rs6805421 0.3545 -
Q2TBA0 non-pleiotropic VAR_069846 p.Ala538Pro Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_069840 p.Arg311Leu Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_069845 p.Glu528Lys Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_069837 p.Leu86Pro Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_069843 p.Gly469Cys Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_069847 p.Glu588Lys Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_069842 p.His455Arg Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_069844 p.Thr506Pro Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_069839 p.Trp201Leu Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q2TBA0 non-pleiotropic VAR_069838 p.Val194Glu Disease - - Nemaline myopathy 8 (NEM8) [MIM:615348]
Q8IXQ5 non-pleiotropic VAR_060674 p.Ala153Val Disease - - Retinitis pigmentosa 42 (RP42) [MIM:612943]
Q8IXQ5 non-pleiotropic VAR_060673 p.Ala153Thr Disease - - Retinitis pigmentosa 42 (RP42) [MIM:612943]
Q8IXQ5 non-pleiotropic VAR_060676 p.His423Tyr Non-Disease - - -
Q8IXQ5 non-pleiotropic VAR_060672 p.Ser150Asn Disease - - Retinitis pigmentosa 42 (RP42) [MIM:612943]
P03952 non-pleiotropic VAR_013598 p.Asn143Ser Disease rs3733402 0.3954 Prekallikrein deficiency (PKK deficiency) [MIM:612423]
P03952 non-pleiotropic VAR_013600 p.His208Pro Non-Disease - - -
P03952 non-pleiotropic VAR_016284 p.Ser381Ala Non-Disease rs4253301 0.0937 -
P03952 non-pleiotropic VAR_013599 p.His202Gln Non-Disease rs4253373 0.0037 -
P03952 non-pleiotropic VAR_016282 p.Phe311Val Non-Disease rs4253377 0.0161 -
P03952 non-pleiotropic VAR_016280 p.Ala178Thr Non-Disease rs4253257 0.0002 -
P03952 non-pleiotropic VAR_016286 p.Arg560Gln Non-Disease rs4253325 0.2117 -
P03952 non-pleiotropic VAR_054907 p.Gly123Arg Disease - - Prekallikrein deficiency (PKK deficiency) [MIM:612423]
P03952 non-pleiotropic VAR_016283 p.Thr358Ala Non-Disease rs4253379 0.0092 -
P03952 non-pleiotropic VAR_020180 p.Ala210Glu Non-Disease rs2278542 0.0142 -
P03952 non-pleiotropic VAR_016285 p.Gln442Pro Non-Disease rs4253316 0.0028 -
P03952 non-pleiotropic VAR_016281 p.Ser269Cys Non-Disease rs4253376 0.0037 -
P03952 non-pleiotropic VAR_054908 p.Cys548Tyr Disease - - Prekallikrein deficiency (PKK deficiency) [MIM:612423]
P01116 pleiotropic VAR_026111 p.Thr58Ile Disease - - Noonan syndrome 3 (NS3) [MIM:609942]
P01116 pleiotropic VAR_069784 p.Tyr71His Disease - - Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
P01116 pleiotropic VAR_065144 p.Lys5Glu Disease - - Noonan syndrome 3 (NS3) [MIM:609942]
P01116 pleiotropic VAR_016028 p.Gly12Ser Disease - - Gastric cancer (GASC) [MIM:613659]
P01116 pleiotropic VAR_016030 p.Ala59Thr Disease - - Gastric cancer (GASC) [MIM:613659]
P01116 pleiotropic VAR_026109 p.Val14Ile Disease - - Noonan syndrome 3 (NS3) [MIM:609942]
P01116 pleiotropic VAR_016026 p.Gly12Asp Disease - - Gastric cancer (GASC) [MIM:613659]
P01116 pleiotropic VAR_064852 p.Pro34Leu Disease - - Noonan syndrome 3 (NS3) [MIM:609942]