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 160 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P41250 | pleiotropic | VAR_054865 | p.Pro42Ala | Non-Disease | rs1049402 | 0.3343 | - |
P41250 | pleiotropic | VAR_018721 | p.Gly580Arg | Disease | rs28937323 | - | Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794] |
P41250 | pleiotropic | VAR_018719 | p.Leu183Pro | Disease | - | - | Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794] |
P41250 | pleiotropic | VAR_018718 | p.Glu125Gly | Disease | rs28936972 | - | Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472] |
P41250 | pleiotropic | VAR_018720 | p.Gly294Arg | Disease | - | - | Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472] |
P41250 | pleiotropic | VAR_054866 | p.Thr268Ile | Non-Disease | rs2230310 | 0.0023 | - |
P41250 | pleiotropic | VAR_054867 | p.Arg388Gln | Non-Disease | rs17159287 | 0.0064 | - |
P23769 | pleiotropic | VAR_055004 | p.Ala164Thr | Non-Disease | rs2335052 | 0.2424 | - |
P23769 | pleiotropic | VAR_066644 | p.Arg361Pro | Disease | - | - | Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038] |
P23769 | pleiotropic | VAR_066407 | p.Arg398Trp | Disease | - | - | Immunodeficiency 21 (IMD21) [MIM:614172] |
P23769 | pleiotropic | VAR_066405 | p.Pro254Leu | Disease | - | - | Immunodeficiency 21 (IMD21) [MIM:614172] |
P23769 | pleiotropic | VAR_055005 | p.Thr235Asn | Non-Disease | rs35079193 | - | - |
P23769 | pleiotropic | VAR_066645 | p.Cys373Arg | Disease | - | - | Lymphedema, primary, with myelodysplasia (LMPM) [MIM:614038] |
P23769 | pleiotropic | VAR_066406 | p.Thr354Met | Disease | - | - | Immunodeficiency 21 (IMD21) [MIM:614172] Myelodysplastic syndrome (MDS) [MIM:614286] |
P23771 | non-pleiotropic | VAR_017818 | p.Trp274Arg | Disease | - | - | Hypoparathyroidism, sensorineural deafness, and renal disease (HDR) [MIM:146255] |
P23771 | non-pleiotropic | VAR_019202 | p.Gly242Ser | Non-Disease | rs11567901 | 0.0002 | - |
Q92908 | pleiotropic | VAR_067390 | p.Lys473Gln | Disease | - | - | Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] |
Q92908 | pleiotropic | VAR_067380 | p.Gly15Arg | Non-Disease | rs116262672 | 0.0335 | - |
Q92908 | pleiotropic | VAR_067385 | p.Arg456Cys | Disease | - | - | Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] |
Q92908 | pleiotropic | VAR_067389 | p.Ala467Thr | Disease | - | - | Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] |
Q92908 | pleiotropic | VAR_067384 | p.Thr452Ala | Disease | - | - | Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] |
Q92908 | pleiotropic | VAR_067382 | p.Ser184Asn | Disease | - | - | Atrial septal defect 9 (ASD9) [MIM:614475] Tetralogy of Fallot (TOF) [MIM:187500] |
Q92908 | pleiotropic | VAR_067381 | p.Ala178Val | Disease | - | - | Atrioventricular septal defect 5 (AVSD5) [MIM:614474] |
Q92908 | pleiotropic | VAR_067386 | p.Arg456His | Disease | - | - | Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] |
Q92908 | pleiotropic | VAR_067388 | p.Asn466His | Disease | - | - | Conotruncal heart malformations (CTHM) [MIM:217095] |
Q92908 | pleiotropic | VAR_067387 | p.Asn466Asp | Disease | - | - | Pancreatic agenesis and congenital heart defects (PACHD) [MIM:600001] |
Q8WUU5 | non-pleiotropic | VAR_068557 | p.Arg233Trp | Non-Disease | rs34768413 | 0.0101 | - |
Q8WUU5 | non-pleiotropic | VAR_032533 | p.Gly54Ser | Non-Disease | rs10281879 | 0.1097 | - |
Q8WUU5 | non-pleiotropic | VAR_068556 | p.Ser102Pro | Disease | - | - | Cardiomyopathy, dilated 2B (CMD2B) [MIM:614672] |
P50440 | non-pleiotropic | VAR_069816 | p.Tyr203Ser | Disease | - | - | Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718] |
P50440 | non-pleiotropic | VAR_020305 | p.Gln110His | Non-Disease | rs1288775 | 0.4027 | - |
Q9HCG7 | non-pleiotropic | VAR_069635 | p.Arg873His | Disease | - | - | Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409] |
Q9HCG7 | non-pleiotropic | VAR_069634 | p.Arg630Trp | Disease | - | - | Spastic paraplegia 46, autosomal recessive (SPG46) [MIM:614409] |
Q92947 | non-pleiotropic | VAR_000386 | p.Leu283Pro | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000407 | p.Arg386Gln | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000405 | p.Arg383Cys | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000422 | p.Ala433Glu | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000391 | p.Ala298Val | Non-Disease | - | - | - |
Q92947 | non-pleiotropic | VAR_000377 | p.Leu179Arg | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000380 | p.Arg227Pro | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000400 | p.Arg355Cys | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000373 | p.Ser139Leu | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000388 | p.Arg294Trp | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000378 | p.Met191Thr | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000413 | p.Arg402Gln | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000392 | p.Ser305Leu | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000416 | p.Leu407Pro | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000368 | p.Gly101Arg | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000376 | p.Gly178Arg | Disease | - | - | Glutaric aciduria 1 (GA1) [MIM:231670] |
Q92947 | non-pleiotropic | VAR_000390 | p.Ala298Thr | Non-Disease | - | - | - |