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 212 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P22888 pleiotropic VAR_003560 p.Ala593Pro Disease - - Luteinizing hormone resistance (LHR) [MIM:238320]
P22888 pleiotropic VAR_010164 p.Cys581Arg Disease - - Familial male precocious puberty (FMPP) [MIM:176410]
Q8TAF8 non-pleiotropic VAR_032056 p.Thr165Met Disease - - Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
Q8TAF8 non-pleiotropic VAR_032055 p.Tyr127Cys Disease - - Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
Q8TAF8 non-pleiotropic VAR_032057 p.Arg176Leu Disease - - Deafness, autosomal recessive, 67 (DFNB67) [MIM:610265]
Q9UBR4 non-pleiotropic VAR_063240 p.Ala210Val Disease - - Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750]
Q9UBR4 non-pleiotropic VAR_010713 p.Tyr111Cys Disease - - Pituitary hormone deficiency, combined, 3 (CPHD3) [MIM:221750]
Q969G2 non-pleiotropic VAR_058717 p.Ala210Pro Disease - - Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
Q969G2 non-pleiotropic VAR_058716 p.Leu190Arg Disease - - Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
Q969G2 non-pleiotropic VAR_063241 p.Pro389Thr Disease rs145433128 0.001 Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
Q969G2 non-pleiotropic VAR_046661 p.Asn328Ser Non-Disease rs7536561 0.4458 -
Q969G2 non-pleiotropic VAR_058715 p.Arg84Cys Disease - - Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700]
O43766 non-pleiotropic VAR_067839 p.Arg249His Disease rs144133667 - Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD) [MIM:614462]
P42702 non-pleiotropic VAR_029109 p.His116Tyr Non-Disease rs3729734 0.0239 -
P42702 non-pleiotropic VAR_021996 p.Ile633Met Non-Disease rs2303743 0.011 -
P42702 non-pleiotropic VAR_025666 p.Ser279Pro Disease - - Stueve-Wiedemann syndrome (STWS) [MIM:601559]
P42702 non-pleiotropic VAR_029111 p.Val785Ile Non-Disease rs3110234 0.1437 -
P42702 non-pleiotropic VAR_029110 p.Asp578Asn Non-Disease rs3729740 0.0629 -
P42702 non-pleiotropic VAR_038626 p.Ser664Leu Non-Disease rs3729744 0.0032 -
P55344 non-pleiotropic VAR_069796 p.Phe105Val Disease - - Cataract 19 (CTRCT19) [MIM:615277]
Q99732 non-pleiotropic VAR_024020 p.Leu122Val Disease - - Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]
Q99732 non-pleiotropic VAR_024017 p.Gly112Ser Disease - - Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]
Q99732 non-pleiotropic VAR_024015 p.Thr49Met Disease rs141862602 0.0004 Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]
Q99732 non-pleiotropic VAR_024016 p.Ile92Val Non-Disease rs4280262 0.129 -
Q99732 non-pleiotropic VAR_024018 p.Thr115Asn Disease - - Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]
Q99732 non-pleiotropic VAR_024019 p.Trp116Gly Disease - - Charcot-Marie-Tooth disease 1C (CMT1C) [MIM:601098]
P02545 pleiotropic VAR_039789 p.Ser573Leu Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370]
P02545 pleiotropic VAR_039754 p.Arg50Ser Disease rs59931416 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009994 p.Lys486Asn Disease - - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_063588 p.Asn39Ser Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205]
P02545 pleiotropic VAR_039765 p.Asp192Gly Disease rs57045855 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_009975 p.Leu85Arg Disease rs28933090 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_039779 p.Arg435Cys Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_009983 p.Arg336Gln Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039764 p.Arg190Trp Disease rs59026483 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_064966 p.Leu271Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009990 p.Ile469Thr Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039784 p.Trp520Ser Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009988 p.Arg453Trp Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_017662 p.Arg471Cys Disease rs28928902 - Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670]
P02545 pleiotropic VAR_064976 p.Gly602Ser Disease rs60662302 0.001 Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_009979 p.His222Tyr Disease rs28928901 - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_039780 p.Asp446Val Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_064967 p.Ser295Pro Disease - - Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350]
P02545 pleiotropic VAR_070177 p.Ile210Ser Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_039750 p.Glu33Asp Non-Disease rs57966821 - -
P02545 pleiotropic VAR_039759 p.Lys97Glu Disease rs59065411 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_039770 p.Asp230Asn Disease - - Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660]
P02545 pleiotropic VAR_070180 p.Arg388His Disease - - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]
P02545 pleiotropic VAR_039758 p.Arg89Leu Disease rs59040894 - Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200]