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 54 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
Q13698 | pleiotropic | VAR_046972 | p.Leu1800Ser | Non-Disease | rs12139527 | 0.213 | - |
Q13698 | pleiotropic | VAR_001502 | p.Arg1239His | Disease | rs28930068 | - | Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400] |
Q13698 | pleiotropic | VAR_046971 | p.Arg1658His | Non-Disease | rs13374149 | 0.0895 | - |
Q13698 | pleiotropic | VAR_046973 | p.Glu1840Asp | Non-Disease | rs1042379 | - | - |
Q13698 | pleiotropic | VAR_001498 | p.Leu458His | Non-Disease | rs12742169 | 0.1731 | - |
Q08289 | non-pleiotropic | VAR_044041 | p.Ser535Leu | Disease | - | - | Brugada syndrome 4 (BRGDA4) [MIM:611876] |
Q9Y698 | non-pleiotropic | VAR_066599 | p.Val143Leu | Disease | - | - | Mental retardation, autosomal dominant 10 (MRD10) [MIM:614256] |
P62158 | non-pleiotropic | VAR_048585 | p.Met73Thr | Non-Disease | rs41389749 | - | - |
P62158 | non-pleiotropic | VAR_069223 | p.Asn98Ser | Disease | - | - | Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] |
P62158 | non-pleiotropic | VAR_069222 | p.Asn54Ile | Disease | - | - | Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] |
Q96L12 | non-pleiotropic | VAR_027944 | p.Leu8Phe | Non-Disease | rs11544148 | - | - |
Q96L12 | non-pleiotropic | VAR_027945 | p.Asp248Gly | Non-Disease | rs10411092 | - | - |
Q96L12 | non-pleiotropic | VAR_065476 | p.Lys82Arg | Disease | - | - | Cardiomyopathy, familial hypertrophic 19 (CMH19) [MIM:613875] |
Q96L12 | non-pleiotropic | VAR_048589 | p.Asp284Asn | Non-Disease | rs10404156 | 0.0018 | - |
Q96L12 | non-pleiotropic | VAR_027946 | p.Val274Ile | Non-Disease | rs12459238 | 0.0418 | - |
Q8WVQ1 | non-pleiotropic | VAR_068660 | p.Ser303Arg | Disease | - | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
Q8WVQ1 | non-pleiotropic | VAR_068662 | p.Ala360Asp | Disease | - | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
Q8WVQ1 | non-pleiotropic | VAR_068663 | p.Ile374Asn | Disease | - | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
Q8WVQ1 | non-pleiotropic | VAR_068664 | p.Gly391Glu | Non-Disease | rs34082669 | 0.0023 | - |
Q8WVQ1 | non-pleiotropic | VAR_062982 | p.Arg300His | Disease | - | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
Q8WVQ1 | non-pleiotropic | VAR_068657 | p.Met165Thr | Disease | - | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
Q8WVQ1 | non-pleiotropic | VAR_068656 | p.Trp125Cys | Disease | - | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
Q8WVQ1 | non-pleiotropic | VAR_062981 | p.Arg300Cys | Disease | - | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
Q8WVQ1 | non-pleiotropic | VAR_068659 | p.Val226Met | Disease | - | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
Q8WVQ1 | non-pleiotropic | VAR_068655 | p.Asp112Glu | Disease | - | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
Q8WVQ1 | non-pleiotropic | VAR_068661 | p.Ala323Thr | Non-Disease | rs9903215 | 0.011 | - |
Q8WVQ1 | non-pleiotropic | VAR_068658 | p.Leu224Pro | Disease | rs150181226 | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
Q8WVQ1 | non-pleiotropic | VAR_062980 | p.Pro299Leu | Disease | - | - | Desbuquois dysplasia 1 (DBQD1) [MIM:251450] |
P20807 | non-pleiotropic | VAR_009566 | p.Thr232Ile | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_001365 | p.Gly234Glu | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009584 | p.Arg490Gln | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009577 | p.Arg448Cys | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009576 | p.Gly445Arg | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009593 | p.Arg698Pro | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_001367 | p.Arg490Trp | Disease | rs141656719 | 0.0002 | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009579 | p.Arg448His | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_047691 | p.Glu622Ala | Non-Disease | rs11557723 | - | - |
P20807 | non-pleiotropic | VAR_001363 | p.Leu182Gln | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009582 | p.Arg489Gln | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009596 | p.Asp705His | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009551 | p.Ser86Phe | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009565 | p.Glu226Lys | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009574 | p.Arg440Trp | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009550 | p.Asp77Asn | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009556 | p.Ile162Leu | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009591 | p.Ser606Leu | Disease | rs199806879 | 0.0002 | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_001366 | p.Val354Gly | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009589 | p.Gly567Trp | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009581 | p.Gln486Glu | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |
P20807 | non-pleiotropic | VAR_009592 | p.Gln638Pro | Disease | - | - | Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600] |