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 111 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9P2K8 non-pleiotropic VAR_040486 p.Lys1336Arg Non-Disease rs35480871 0.0055 -
Q9P2K8 non-pleiotropic VAR_040482 p.Asp872Val Non-Disease - - -
Q9P2K8 non-pleiotropic VAR_040484 p.Thr1060Arg Non-Disease - - -
Q9P2K8 non-pleiotropic VAR_070991 p.Leu643Arg Disease - - Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810]
Q9P2K8 non-pleiotropic VAR_070990 p.Arg585Gln Disease - - Pulmonary venoocclusive disease 2, autosomal recessive (PVOD2) [MIM:234810]
Q9P2K8 non-pleiotropic VAR_040479 p.His137Arg Non-Disease - - -
Q9P2K8 non-pleiotropic VAR_040481 p.Ile441Leu Non-Disease rs2291627 0.2438 -
Q9P2K8 non-pleiotropic VAR_040480 p.Arg166Trp Non-Disease rs34439704 0.0005 -
Q9P2K8 non-pleiotropic VAR_040485 p.Gly1306Cys Non-Disease rs35602605 0.0895 -
Q9P2K8 non-pleiotropic VAR_040487 p.Gln1406His Non-Disease rs55721315 0.0009 -
Q14232 non-pleiotropic VAR_068450 p.Val183Phe Disease - - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q14232 non-pleiotropic VAR_015404 p.Asn208Tyr Disease - - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9NR50 non-pleiotropic VAR_015410 p.Arg225Gln Disease - - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9NR50 non-pleiotropic VAR_048920 p.Asp288Glu Non-Disease rs3738247 0.0005 -
Q9NR50 non-pleiotropic VAR_068470 p.Leu27Gln Disease - - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9NR50 non-pleiotropic VAR_068472 p.Ile346Thr Disease - - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9NR50 non-pleiotropic VAR_015409 p.Ala87Val Disease - - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
Q9NR50 non-pleiotropic VAR_068471 p.Gly47Glu Disease - - Leukodystrophy with vanishing white matter (VWM) [MIM:603896]
P38919 non-pleiotropic VAR_071090 p.Asp270Gly Disease - - Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305]
Q04637 non-pleiotropic VAR_066575 p.Ile806Val Non-Disease rs62287499 0.0005 -
Q04637 non-pleiotropic VAR_066576 p.Thr829Ser Non-Disease rs111500185 - -
Q04637 non-pleiotropic VAR_066579 p.Arg1205His Disease rs112176450 - Parkinson disease 18 (PARK18) [MIM:614251]
Q04637 non-pleiotropic VAR_061148 p.Pro1229Ala Non-Disease rs35629949 0.0014 -
Q04637 non-pleiotropic VAR_063040 p.Met432Val Non-Disease rs2178403 0.2195 -
Q04637 non-pleiotropic VAR_066573 p.Ala502Val Disease rs111290936 - Parkinson disease 18 (PARK18) [MIM:614251]
Q04637 non-pleiotropic VAR_061147 p.Thr161Ala Non-Disease rs13319149 0.0018 -
Q04637 non-pleiotropic VAR_066571 p.Pro71Ser Non-Disease rs113810947 - -
Q04637 non-pleiotropic VAR_055705 p.Leu1233Pro Non-Disease rs2230570 0.034 -
Q04637 non-pleiotropic VAR_066580 p.Asn1257Ser Non-Disease rs73053766 0.0 -
Q04637 non-pleiotropic VAR_055704 p.Tyr311Cys Non-Disease rs16858632 0.0165 -
Q96FG2 non-pleiotropic VAR_030362 p.Arg66Cys Non-Disease rs7564372 0.0574 -
Q96FG2 non-pleiotropic VAR_070125 p.Leu265Ser Disease - - Deafness, autosomal recessive, 88 (DFNB88) [MIM:615429]
Q96FG2 non-pleiotropic VAR_030363 p.Thr70Ile Non-Disease rs955592 0.034 -
P50402 non-pleiotropic VAR_038433 p.Asp149His Non-Disease rs2070818 0.0018 -
P50402 non-pleiotropic VAR_005199 p.Pro183His Disease - - Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
P50402 non-pleiotropic VAR_016016 p.Gln133His Disease - - Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
P50402 non-pleiotropic VAR_005198 p.Ser54Phe Disease - - Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
P50402 non-pleiotropic VAR_005200 p.Pro183Thr Disease - - Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]
Q92979 non-pleiotropic VAR_062480 p.Asp86Gly Disease - - Bowen-Conradi syndrome (BWCNS) [MIM:211180]
Q92979 non-pleiotropic VAR_050237 p.Ala34Gly Non-Disease rs11064480 - -
P17813 non-pleiotropic VAR_070285 p.Ile220Thr Disease - - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813 non-pleiotropic VAR_070298 p.Leu490Ser Disease - - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813 non-pleiotropic VAR_005192 p.Thr5Met Non-Disease rs35400405 0.0418 -
P17813 non-pleiotropic VAR_026781 p.Cys412Ser Disease - - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813 non-pleiotropic VAR_005195 p.Trp149Cys Disease - - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813 non-pleiotropic VAR_005194 p.Cys53Arg Disease - - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813 non-pleiotropic VAR_009121 p.Leu221Pro Disease - - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813 non-pleiotropic VAR_026775 p.Val49Phe Disease - - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813 non-pleiotropic VAR_070280 p.Val105Asp Disease - - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]
P17813 non-pleiotropic VAR_005197 p.Leu306Pro Disease - - Telangiectasia, hereditary hemorrhagic, 1 (HHT1) [MIM:187300]