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 114 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
O95278 | non-pleiotropic | VAR_019469 | p.Phe84Leu | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_046383 | p.Lys140Asn | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019478 | p.Gly279Ser | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019466 | p.Glu28Lys | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_046386 | p.Leu310Trp | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_046384 | p.Asn148Tyr | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019465 | p.Ser25Pro | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019476 | p.Thr194Ile | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_046385 | p.Glu210Lys | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019473 | p.Glu114Asp | Non-Disease | - | - | - |
O95278 | non-pleiotropic | VAR_019475 | p.Thr187Ala | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019480 | p.Tyr294Asn | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019477 | p.Gly240Ser | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
O95278 | non-pleiotropic | VAR_019479 | p.Gln293Leu | Disease | - | - | Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780] |
P19235 | non-pleiotropic | VAR_033919 | p.Pro380Ala | Non-Disease | rs35423344 | 0.0496 | - |
P19235 | non-pleiotropic | VAR_027372 | p.Asn487Ser | Disease | rs62638745 | 0.0022 | Erythrocytosis, familial, 1 (ECYT1) [MIM:133100] |
P19235 | non-pleiotropic | VAR_027373 | p.Pro488Ser | Disease | rs142094773 | 0.0048 | Erythrocytosis, familial, 1 (ECYT1) [MIM:133100] |
P11678 | non-pleiotropic | VAR_050486 | p.Val458Met | Non-Disease | rs34817773 | 0.0014 | - |
P11678 | non-pleiotropic | VAR_025139 | p.Gln122His | Non-Disease | rs11652709 | 0.2103 | - |
P11678 | non-pleiotropic | VAR_020031 | p.Asn572Tyr | Non-Disease | rs2302311 | 0.0133 | - |
P11678 | non-pleiotropic | VAR_025145 | p.Arg364His | Non-Disease | rs35232062 | 0.0018 | - |
P11678 | non-pleiotropic | VAR_025138 | p.Ile40Met | Non-Disease | rs11079339 | 0.124 | - |
P11678 | non-pleiotropic | VAR_025147 | p.His496Gln | Non-Disease | rs33955150 | 0.0096 | - |
P11678 | non-pleiotropic | VAR_050485 | p.Val35Ile | Non-Disease | rs34553736 | 0.0046 | - |
P11678 | non-pleiotropic | VAR_025140 | p.Ala249Glu | Non-Disease | rs35896669 | 0.0023 | - |
P11678 | non-pleiotropic | VAR_060198 | p.Arg326Leu | Non-Disease | - | - | - |
P11678 | non-pleiotropic | VAR_015376 | p.Arg286His | Disease | rs121434566 | 0.0002 | Eosinophil peroxidase deficiency (EPXD) [MIM:261500] |
P11678 | non-pleiotropic | VAR_025143 | p.Arg326Pro | Non-Disease | rs35832094 | 0.0005 | - |
P11678 | non-pleiotropic | VAR_025142 | p.Pro292Leu | Non-Disease | rs33971258 | 0.0129 | - |
P11678 | non-pleiotropic | VAR_025141 | p.Lys276Arg | Non-Disease | rs35074452 | 0.0018 | - |
P11678 | non-pleiotropic | VAR_060197 | p.Arg326His | Non-Disease | rs35832094 | 0.0005 | - |
P11678 | non-pleiotropic | VAR_025144 | p.Pro358Leu | Non-Disease | rs35135976 | 0.0028 | - |
P11678 | non-pleiotropic | VAR_025146 | p.Lys441Thr | Non-Disease | rs35750729 | 0.0661 | - |
Q15303 | non-pleiotropic | VAR_070810 | p.Arg927Gln | Disease | - | - | Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] |
Q15303 | non-pleiotropic | VAR_070811 | p.Arg1275Trp | Disease | - | - | Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] |
P07992 | non-pleiotropic | VAR_019167 | p.Ala266Thr | Non-Disease | rs3212977 | 0.0023 | - |
P07992 | non-pleiotropic | VAR_032776 | p.Phe231Leu | Disease | - | - | Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758] |
P18074 | pleiotropic | VAR_008195 | p.Arg658His | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_017284 | p.Arg487Gly | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_003626 | p.Arg616Pro | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_011414 | p.Asp312Asn | Non-Disease | rs1799793 | 0.1942 | - |
P18074 | pleiotropic | VAR_008193 | p.Arg616Trp | Disease | - | - | Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_017282 | p.Thr76Ala | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_003622 | p.Arg112His | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_008196 | p.Asp673Gly | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_003627 | p.Gly602Asp | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_017292 | p.Arg666Trp | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_003625 | p.Ser541Arg | Disease | rs121913019 | 0.0002 | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_003623 | p.Leu461Val | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_017289 | p.Arg601Trp | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |