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 114 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
O95278 non-pleiotropic VAR_019469 p.Phe84Leu Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_046383 p.Lys140Asn Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019478 p.Gly279Ser Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019466 p.Glu28Lys Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_046386 p.Leu310Trp Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_046384 p.Asn148Tyr Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019465 p.Ser25Pro Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019476 p.Thr194Ile Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_046385 p.Glu210Lys Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019473 p.Glu114Asp Non-Disease - - -
O95278 non-pleiotropic VAR_019475 p.Thr187Ala Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019480 p.Tyr294Asn Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019477 p.Gly240Ser Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
O95278 non-pleiotropic VAR_019479 p.Gln293Leu Disease - - Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
P19235 non-pleiotropic VAR_033919 p.Pro380Ala Non-Disease rs35423344 0.0496 -
P19235 non-pleiotropic VAR_027372 p.Asn487Ser Disease rs62638745 0.0022 Erythrocytosis, familial, 1 (ECYT1) [MIM:133100]
P19235 non-pleiotropic VAR_027373 p.Pro488Ser Disease rs142094773 0.0048 Erythrocytosis, familial, 1 (ECYT1) [MIM:133100]
P11678 non-pleiotropic VAR_050486 p.Val458Met Non-Disease rs34817773 0.0014 -
P11678 non-pleiotropic VAR_025139 p.Gln122His Non-Disease rs11652709 0.2103 -
P11678 non-pleiotropic VAR_020031 p.Asn572Tyr Non-Disease rs2302311 0.0133 -
P11678 non-pleiotropic VAR_025145 p.Arg364His Non-Disease rs35232062 0.0018 -
P11678 non-pleiotropic VAR_025138 p.Ile40Met Non-Disease rs11079339 0.124 -
P11678 non-pleiotropic VAR_025147 p.His496Gln Non-Disease rs33955150 0.0096 -
P11678 non-pleiotropic VAR_050485 p.Val35Ile Non-Disease rs34553736 0.0046 -
P11678 non-pleiotropic VAR_025140 p.Ala249Glu Non-Disease rs35896669 0.0023 -
P11678 non-pleiotropic VAR_060198 p.Arg326Leu Non-Disease - - -
P11678 non-pleiotropic VAR_015376 p.Arg286His Disease rs121434566 0.0002 Eosinophil peroxidase deficiency (EPXD) [MIM:261500]
P11678 non-pleiotropic VAR_025143 p.Arg326Pro Non-Disease rs35832094 0.0005 -
P11678 non-pleiotropic VAR_025142 p.Pro292Leu Non-Disease rs33971258 0.0129 -
P11678 non-pleiotropic VAR_025141 p.Lys276Arg Non-Disease rs35074452 0.0018 -
P11678 non-pleiotropic VAR_060197 p.Arg326His Non-Disease rs35832094 0.0005 -
P11678 non-pleiotropic VAR_025144 p.Pro358Leu Non-Disease rs35135976 0.0028 -
P11678 non-pleiotropic VAR_025146 p.Lys441Thr Non-Disease rs35750729 0.0661 -
Q15303 non-pleiotropic VAR_070810 p.Arg927Gln Disease - - Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515]
Q15303 non-pleiotropic VAR_070811 p.Arg1275Trp Disease - - Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515]
P07992 non-pleiotropic VAR_019167 p.Ala266Thr Non-Disease rs3212977 0.0023 -
P07992 non-pleiotropic VAR_032776 p.Phe231Leu Disease - - Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758]
P18074 pleiotropic VAR_008195 p.Arg658His Disease - - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
P18074 pleiotropic VAR_017284 p.Arg487Gly Disease - - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
P18074 pleiotropic VAR_003626 p.Arg616Pro Disease - - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074 pleiotropic VAR_011414 p.Asp312Asn Non-Disease rs1799793 0.1942 -
P18074 pleiotropic VAR_008193 p.Arg616Trp Disease - - Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756]
Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074 pleiotropic VAR_017282 p.Thr76Ala Disease - - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074 pleiotropic VAR_003622 p.Arg112His Disease - - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074 pleiotropic VAR_008196 p.Asp673Gly Disease - - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
P18074 pleiotropic VAR_003627 p.Gly602Asp Disease - - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074 pleiotropic VAR_017292 p.Arg666Trp Disease - - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074 pleiotropic VAR_003625 p.Ser541Arg Disease rs121913019 0.0002 Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074 pleiotropic VAR_003623 p.Leu461Val Disease - - Trichothiodystrophy photosensitive (TTDP) [MIM:601675]
Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]
P18074 pleiotropic VAR_017289 p.Arg601Trp Disease - - Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730]