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 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 -