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.

Refine Search

UniProtID
Disease name
Protein type
Variant type
Use data from

Show per page.

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 107 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q16828 non-pleiotropic VAR_051750 p.Ser144Ala Non-Disease rs770087 0.1882 -
Q16828 non-pleiotropic VAR_069945 p.Asn189Ser Disease rs143946794 - Hypogonadotropic hypogonadism 19 with or without anosmia (HH19) [MIM:615269]
Q14204 pleiotropic VAR_070587 p.Arg3384Gln Disease - - Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204 pleiotropic VAR_066651 p.His306Arg Disease - - Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228]
Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204 pleiotropic VAR_069440 p.Arg4143Cys Non-Disease - - -
Q14204 pleiotropic VAR_070583 p.Arg1962Cys Disease - - Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204 pleiotropic VAR_069444 p.Ser4603Gly Non-Disease - - -
Q14204 pleiotropic VAR_069442 p.Ala4421Thr Non-Disease - - -
Q14204 pleiotropic VAR_020890 p.His4029Gln Non-Disease rs10129889 0.0923 -
Q14204 pleiotropic VAR_070585 p.Lys3336Asn Disease - - Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204 pleiotropic VAR_069439 p.Val2247Met Non-Disease - - -
Q14204 pleiotropic VAR_069443 p.Ile4507Ser Non-Disease - - -
Q14204 pleiotropic VAR_070584 p.Lys3241Thr Disease - - Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204 pleiotropic VAR_070582 p.Arg1567Gln Disease - - Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204 pleiotropic VAR_069438 p.Val1250Leu Non-Disease - - -
Q14204 pleiotropic VAR_070586 p.Arg3344Gln Disease - - Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204 pleiotropic VAR_070580 p.Lys129Ile Disease - - Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204 pleiotropic VAR_067820 p.Ile584Leu Disease - - Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204 pleiotropic VAR_069441 p.Ala4285Ser Non-Disease - - -
Q14204 pleiotropic VAR_067821 p.Lys671Glu Disease - - Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204 pleiotropic VAR_069437 p.Glu142Ala Non-Disease - - -
Q14204 pleiotropic VAR_065085 p.His3822Pro Disease - - Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204 pleiotropic VAR_067823 p.Glu1518Lys Disease - - Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]
Q14204 pleiotropic VAR_067822 p.Tyr970Cys Disease - - Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600]
Q14204 pleiotropic VAR_020889 p.Asp3902Asn Non-Disease rs17512818 - -
Q5JPH6 non-pleiotropic VAR_069238 p.Arg107His Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_069236 p.Lys65Glu Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_069247 p.Arg516Gln Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_069244 p.Gly224Ser Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_069245 p.Gly317Cys Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_069237 p.Glu96Lys Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_069239 p.Arg108Trp Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_069240 p.Gly110Ser Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_028840 p.Ser457Gly Non-Disease rs6497671 0.202 -
Q5JPH6 non-pleiotropic VAR_069243 p.Gly204Ser Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_069241 p.Cys167Tyr Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_069235 p.Arg55His Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q5JPH6 non-pleiotropic VAR_069242 p.Arg168Gly Disease - - Combined oxidative phosphorylation deficiency 12 (COXPD12) [MIM:614924]
Q15125 non-pleiotropic VAR_012106 p.Arg110Gln Disease - - Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
Q15125 non-pleiotropic VAR_012105 p.Glu80Lys Disease rs28936073 - Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
Q15125 non-pleiotropic VAR_012108 p.Arg147His Disease rs28935174 - Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
Q15125 non-pleiotropic VAR_012107 p.Arg147Gly Disease - - Chondrodysplasia punctata 2, X-linked dominant (CDPX2) [MIM:302960]
O95672 non-pleiotropic VAR_012814 p.His328Tyr Non-Disease rs1529874 0.0349 -
O95672 non-pleiotropic VAR_069993 p.Arg404Cys Disease - - Arthrogryposis, distal, 5D (DA5D) [MIM:615065]
O95672 non-pleiotropic VAR_069995 p.Cys760Arg Disease - - Arthrogryposis, distal, 5D (DA5D) [MIM:615065]
O95672 non-pleiotropic VAR_012813 p.His10Gln Non-Disease rs2741281 - -
O95672 non-pleiotropic VAR_069747 p.Arg418Ser Disease - - Arthrogryposis, distal, 5D (DA5D) [MIM:615065]
O95672 non-pleiotropic VAR_069994 p.Gly607Ser Disease - - Arthrogryposis, distal, 5D (DA5D) [MIM:615065]
Q16610 non-pleiotropic VAR_018690 p.Thr130Met Non-Disease rs3737240 0.2443 -
Q16610 non-pleiotropic VAR_014762 p.Gly528Arg Non-Disease rs1050901 - -