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 188 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q96RY7 non-pleiotropic VAR_062098 p.Ser561Asn Non-Disease rs8050974 0.0253 -
Q96RY7 non-pleiotropic VAR_071002 p.Glu243Gly Non-Disease - - -
Q96RY7 non-pleiotropic VAR_068527 p.Gly522Glu Disease - - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7 non-pleiotropic VAR_053401 p.Arg621Gln Non-Disease rs11648609 0.0776 -
Q96RY7 non-pleiotropic VAR_071000 p.Leu152Phe Disease - - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7 non-pleiotropic VAR_068525 p.Val292Met Disease - - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7 non-pleiotropic VAR_070999 p.Arg110His Non-Disease rs371077545 0.0004 -
Q96RY7 non-pleiotropic VAR_071003 p.Glu267Gly Disease - - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7 non-pleiotropic VAR_071007 p.Pro1353Arg Non-Disease - - -
Q96RY7 non-pleiotropic VAR_053400 p.Ala451Val Non-Disease rs8060532 0.0253 -
Q96RY7 non-pleiotropic VAR_053397 p.Arg279Pro Non-Disease rs4786350 0.0335 -
Q96RY7 non-pleiotropic VAR_068526 p.Tyr311Cys Disease - - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7 non-pleiotropic VAR_053402 p.Pro670Ser Non-Disease rs34900355 0.0142 -
Q96RY7 non-pleiotropic VAR_068529 p.Glu664Lys Disease - - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7 non-pleiotropic VAR_071006 p.Asp787Gly Non-Disease rs144938800 0.0014 -
Q96RY7 non-pleiotropic VAR_071005 p.Leu514His Non-Disease rs150903791 0.0014 -
Q96RY7 non-pleiotropic VAR_053399 p.Val398Ile Non-Disease rs34762152 0.0857 -
Q96RY7 non-pleiotropic VAR_071004 p.Trp459Ser Non-Disease - - -
Q96RY7 non-pleiotropic VAR_053403 p.Ala1070Val Non-Disease rs2235638 0.0905 -
Q96RY7 non-pleiotropic VAR_068524 p.Ile233Met Disease - - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7 non-pleiotropic VAR_068523 p.Gly212Arg Disease - - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q96RY7 non-pleiotropic VAR_071001 p.Pro161Thr Non-Disease - - -
Q96RY7 non-pleiotropic VAR_053398 p.Arg280Gln Non-Disease rs35404373 0.0138 -
Q96RY7 non-pleiotropic VAR_068528 p.Arg576Gln Disease - - Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) [MIM:266920]
Q9UG01 non-pleiotropic VAR_070960 p.Arg1544Cys Disease - - Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
Q9UG01 non-pleiotropic VAR_070959 p.Leu1536Pro Disease - - Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
Q9UG01 non-pleiotropic VAR_042581 p.Arg953His Non-Disease rs704793 0.0041 -
Q9UG01 non-pleiotropic VAR_070956 p.Arg296Trp Disease - - Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
Q9UG01 non-pleiotropic VAR_070957 p.Ile411Asn Disease - - Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
Q9UG01 non-pleiotropic VAR_070961 p.Cys1727Arg Disease - - Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]
Q9P2H3 non-pleiotropic VAR_035006 p.His105Gln Disease - - Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263]
Q9P2H3 non-pleiotropic VAR_035008 p.Thr586Ser Non-Disease rs6778728 0.2562 -
Q9P2H3 non-pleiotropic VAR_035009 p.Ala701Pro Disease - - Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) [MIM:611263]
P08069 non-pleiotropic VAR_041426 p.Asn857Ser Non-Disease rs45611935 0.006 -
P08069 non-pleiotropic VAR_018856 p.Arg605His Non-Disease rs45553041 0.0002 -
P08069 non-pleiotropic VAR_034892 p.Lys145Asn Disease - - Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
P08069 non-pleiotropic VAR_034894 p.Arg511Gln Non-Disease rs33958176 0.0009 -
P08069 non-pleiotropic VAR_041425 p.Arg595His Non-Disease rs56248469 0.0002 -
P08069 non-pleiotropic VAR_034897 p.Ala828Thr Non-Disease rs35224135 0.0002 -
P08069 non-pleiotropic VAR_034891 p.Arg138Gln Disease - - Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
P08069 non-pleiotropic VAR_018855 p.Val388Met Non-Disease rs45445894 0.0009 -
P08069 non-pleiotropic VAR_034896 p.His808Arg Non-Disease rs34061581 - -
P08069 non-pleiotropic VAR_034893 p.Arg437His Non-Disease rs34516635 0.0009 -
P08069 non-pleiotropic VAR_041427 p.Ala1338Thr Non-Disease rs34102392 - -
P08069 non-pleiotropic VAR_034895 p.Arg739Gln Disease - - Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450]
P38935 non-pleiotropic VAR_058505 p.Arg581Ser Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022326 p.Leu361Pro Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_055225 p.Ala75Thr Non-Disease rs2228206 0.0051 -
P38935 non-pleiotropic VAR_021900 p.Glu928Lys Non-Disease rs2275996 0.0236 -
P38935 non-pleiotropic VAR_022338 p.Arg637Cys Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]