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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UniProtID
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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 64 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q4KMG0 non-pleiotropic VAR_056041 p.Ala686Val Non-Disease rs12274923 0.1263 -
Q4KMG0 non-pleiotropic VAR_066501 p.Thr790Ala Disease - - Holoprosencephaly 11 (HPE11) [MIM:614226]
Q4KMG0 non-pleiotropic VAR_056040 p.Pro351Ala Non-Disease rs35665264 0.0119 -
Q4KMG0 non-pleiotropic VAR_066498 p.Pro689Ala Disease - - Holoprosencephaly 11 (HPE11) [MIM:614226]
Q4KMG0 non-pleiotropic VAR_066497 p.Thr684Ser Disease rs145983470 0.0018 Holoprosencephaly 11 (HPE11) [MIM:614226]
Q9H211 non-pleiotropic VAR_065492 p.Glu468Lys Disease - - Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
Q9H211 non-pleiotropic VAR_065490 p.Arg453Trp Disease - - Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
Q9H211 non-pleiotropic VAR_065488 p.Ala66Thr Disease - - Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
Q9H211 non-pleiotropic VAR_024408 p.Ala537Val Non-Disease rs3218721 0.0165 -
Q9H211 non-pleiotropic VAR_065489 p.Gln117His Disease - - Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
Q9H211 non-pleiotropic VAR_054505 p.Thr262Ala Non-Disease rs480727 0.4334 -
Q9H211 non-pleiotropic VAR_065491 p.Arg462Gln Disease - - Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804]
Q9H211 non-pleiotropic VAR_029165 p.Glu456Ala Non-Disease rs3218729 0.0073 -
Q9H211 non-pleiotropic VAR_029163 p.Ala135Val Non-Disease rs3218725 0.0041 -
Q9H211 non-pleiotropic VAR_029164 p.Arg172Cys Non-Disease rs3218727 0.0016 -
Q9H211 non-pleiotropic VAR_054504 p.Cys234Arg Non-Disease rs507329 0.0005 -
Q2WEN9 non-pleiotropic VAR_067769 p.Thr140Pro Disease - - Deafness, autosomal dominant, 4B (DFNA4B) [MIM:614614]
Q9NYQ6 non-pleiotropic VAR_049465 p.Val1242Ile Non-Disease rs6008842 0.0422 -
Q9NYQ6 non-pleiotropic VAR_049464 p.Ile587Val Non-Disease rs34141466 0.0138 -
Q9NYQ6 non-pleiotropic VAR_067217 p.Ser2964Leu Disease rs6008777 0.0232 Neural tube defects (NTD) [MIM:182940]
Q9NYQ6 non-pleiotropic VAR_024480 p.Thr2268Ala Non-Disease rs6007897 0.2227 -
Q9NYQ6 non-pleiotropic VAR_049468 p.Leu1995Pro Non-Disease rs6008794 0.2456 -
Q9NYQ6 non-pleiotropic VAR_016095 p.Cys1126Arg Non-Disease rs4823561 0.0422 -
Q9NYQ6 non-pleiotropic VAR_049467 p.Leu1994Pro Non-Disease rs6008795 0.1772 -
Q9NYQ6 non-pleiotropic VAR_067214 p.Arg2312Pro Non-Disease rs7287089 0.0147 -
Q9NYQ6 non-pleiotropic VAR_049471 p.Cys2797Ser Non-Disease rs12165943 0.2929 -
Q9NYQ6 non-pleiotropic VAR_024479 p.Ile2107Val Non-Disease rs4044210 0.2475 -
Q9NYQ6 non-pleiotropic VAR_049472 p.Glu2903Gln Non-Disease rs9615351 0.2355 -
Q9NYQ6 non-pleiotropic VAR_049473 p.Gly2948Ser Non-Disease rs35364389 0.1781 -
Q9NYQ6 non-pleiotropic VAR_049469 p.Thr2045Met Non-Disease rs12169391 0.0101 -
Q9NYQ6 non-pleiotropic VAR_067213 p.Ala773Val Disease rs12170597 0.0054 Neural tube defects (NTD) [MIM:182940]
Q9NYQ6 non-pleiotropic VAR_049470 p.Arg2219His Non-Disease rs34267201 0.0294 -
Q9NYQ6 non-pleiotropic VAR_016094 p.Ser664Trp Non-Disease rs4823850 0.095 -
Q9NYQ6 non-pleiotropic VAR_067218 p.Pro2983Ala Disease rs61741871 0.0317 Neural tube defects (NTD) [MIM:182940]
Q9NYQ6 non-pleiotropic VAR_049466 p.Tyr1894His Non-Disease rs34467708 0.0248 -
Q9NYQ6 non-pleiotropic VAR_067215 p.Arg2438Gln Disease rs199688538 0.0004 Neural tube defects (NTD) [MIM:182940]
O94986 pleiotropic VAR_047932 p.Ser54Leu Non-Disease rs2289181 0.0657 -
O94986 pleiotropic VAR_065258 p.Lys667Arg Disease rs200879436 0.0034 Seckel syndrome 5 (SCKL5) [MIM:613823]
O94986 pleiotropic VAR_063813 p.Gln265Pro Disease - - Microcephaly 9, primary, autosomal recessive (MCPH9) [MIM:614852]
O94986 pleiotropic VAR_050781 p.Val1106Ala Non-Disease rs16961557 0.0317 -
O94986 pleiotropic VAR_050779 p.Ser793Ile Non-Disease rs2289178 0.0523 -
O94986 pleiotropic VAR_050780 p.Leu914Val Non-Disease rs16961560 0.0597 -
Q9UPV0 non-pleiotropic VAR_037512 p.Thr988Ser Non-Disease rs2305830 0.2916 -
Q9UPV0 non-pleiotropic VAR_068503 p.Gln11Pro Disease - - Nephronophthisis 15 (NPHP15) [MIM:614845]
Q9UPV0 non-pleiotropic VAR_037511 p.Ser94Asn Non-Disease rs490262 0.1919 -
Q9UPV0 non-pleiotropic VAR_068504 p.Arg93Trp Disease - - Nephronophthisis 15 (NPHP15) [MIM:614845]
Q9UPV0 non-pleiotropic VAR_037513 p.Gln1119Arg Non-Disease rs573455 0.4637 -
Q49MI3 non-pleiotropic VAR_053688 p.Leu232Phe Non-Disease rs10185262 0.0055 -
Q49MI3 non-pleiotropic VAR_053689 p.Glu514Gly Non-Disease rs35955809 0.0073 -
Q49MI3 non-pleiotropic VAR_065182 p.Arg106Ser Disease - - Retinitis pigmentosa 26 (RP26) [MIM:608380]