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 115 of 403)
UniProt | Protein Type | Variant ID | Variation | Variant Type | RsID | MAF | Disease |
---|---|---|---|---|---|---|---|
P18074 | pleiotropic | VAR_008192 | p.Arg601Leu | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_008187 | p.Gly47Arg | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_008189 | p.Cys259Tyr | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_017283 | p.Leu485Pro | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_011413 | p.His201Tyr | Non-Disease | rs1799792 | 0.0006 | - |
P18074 | pleiotropic | VAR_017290 | p.Arg658Gly | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_008191 | p.Tyr542Cys | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_008194 | p.Arg658Cys | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_011412 | p.Ile199Met | Non-Disease | rs1799791 | - | - |
P18074 | pleiotropic | VAR_017288 | p.Ala594Pro | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_011415 | p.Arg616Cys | Non-Disease | - | - | - |
P18074 | pleiotropic | VAR_008197 | p.Arg683Gln | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_008198 | p.Arg683Trp | Disease | rs41556519 | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_017285 | p.Arg511Gln | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_011416 | p.Lys751Gln | Non-Disease | rs13181 | 0.2369 | - |
P18074 | pleiotropic | VAR_008188 | p.Asp234Asn | Disease | - | - | Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_017287 | p.Arg592Pro | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_003631 | p.Ala725Pro | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_017291 | p.Cys663Arg | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_003630 | p.Arg722Trp | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P18074 | pleiotropic | VAR_017293 | p.Asp681Asn | Disease | - | - | Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] |
P18074 | pleiotropic | VAR_008199 | p.Gly713Arg | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
P19447 | pleiotropic | VAR_014344 | p.Ser735Pro | Non-Disease | rs4150522 | 0.0014 | - |
P19447 | pleiotropic | VAR_014766 | p.Lys117Arg | Non-Disease | rs1805161 | 0.0005 | - |
P19447 | pleiotropic | VAR_017294 | p.Ser704Leu | Non-Disease | rs4150521 | 0.0018 | - |
P19447 | pleiotropic | VAR_014767 | p.Gly402Cys | Non-Disease | rs1805162 | - | - |
P19447 | pleiotropic | VAR_003632 | p.Phe99Ser | Disease | - | - | Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651] |
P19447 | pleiotropic | VAR_008186 | p.Thr119Pro | Disease | - | - | Trichothiodystrophy photosensitive (TTDP) [MIM:601675] |
Q92889 | pleiotropic | VAR_008200 | p.Ile225Met | Disease | - | - | Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] |
Q92889 | pleiotropic | VAR_034802 | p.Arg153Pro | Disease | - | - | XFE progeroid syndrome (XFEPS) [MIM:610965] |
Q92889 | pleiotropic | VAR_013397 | p.Arg576Thr | Non-Disease | rs1800068 | 0.0014 | - |
Q92889 | pleiotropic | VAR_057478 | p.Ser768Phe | Non-Disease | rs12928650 | - | - |
Q92889 | pleiotropic | VAR_014770 | p.Ser662Pro | Non-Disease | rs2020955 | 0.0487 | - |
Q92889 | pleiotropic | VAR_070088 | p.Arg589Trp | Disease | - | - | Xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS) [MIM:278760] |
Q92889 | pleiotropic | VAR_013398 | p.Leu608Pro | Disease | - | - | Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] |
Q92889 | pleiotropic | VAR_057479 | p.Ala860Asp | Non-Disease | rs4986933 | 0.0018 | - |
Q92889 | pleiotropic | VAR_008205 | p.Ile529Thr | Disease | - | - | Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] |
Q92889 | pleiotropic | VAR_008206 | p.Thr567Ala | Disease | - | - | Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] |
Q92889 | pleiotropic | VAR_057477 | p.Val33Leu | Non-Disease | rs34205098 | - | - |
Q92889 | pleiotropic | VAR_005849 | p.Gly703Asp | Non-Disease | - | - | - |
Q92889 | pleiotropic | VAR_014769 | p.Ala168Val | Non-Disease | rs2020961 | 0.0005 | - |
Q92889 | pleiotropic | VAR_013395 | p.Pro379Ser | Non-Disease | rs1799802 | 0.0032 | - |
Q92889 | pleiotropic | VAR_014772 | p.Gly912Glu | Non-Disease | rs2020956 | - | - |
Q92889 | pleiotropic | VAR_070086 | p.Leu230Pro | Disease | - | - | Fanconi anemia complementation group Q (FANCQ) [MIM:615272] |
Q92889 | pleiotropic | VAR_005850 | p.Arg799Trp | Disease | - | - | Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] |
Q92889 | pleiotropic | VAR_008204 | p.Gly513Arg | Disease | - | - | Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] |
Q92889 | pleiotropic | VAR_014771 | p.Ile706Thr | Non-Disease | rs1800069 | - | - |
Q92889 | pleiotropic | VAR_070089 | p.Arg689Ser | Disease | - | - | Fanconi anemia complementation group Q (FANCQ) [MIM:615272] |
Q92889 | pleiotropic | VAR_019201 | p.Ile873Val | Non-Disease | rs2020957 | 0.0028 | - |
Q92889 | pleiotropic | VAR_013396 | p.Arg415Gln | Non-Disease | rs1800067 | 0.0312 | - |