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 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 - - -