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
Disease name
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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 168 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P29033 pleiotropic VAR_015942 p.Arg165Trp Non-Disease - - -
P29033 pleiotropic VAR_032751 p.Gly59Ser Disease - - Bart-Pumphrey syndrome (BPS) [MIM:149200]
P29033 pleiotropic VAR_015454 p.Ser17Phe Disease rs28929485 - Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210]
P29033 pleiotropic VAR_015940 p.Arg143Gln Disease - - Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033 pleiotropic VAR_069520 p.Gly130Ala Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_002140 p.Arg75Trp Disease - - Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]
P29033 pleiotropic VAR_069521 p.Gly130Asp Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_015937 p.Leu90Pro Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_015936 p.Arg75Gln Disease - - Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]
P29033 pleiotropic VAR_002144 p.Val95Met Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_069522 p.Gly130Val Disease - - Vohwinkel syndrome (VS) [MIM:124500]
P29033 pleiotropic VAR_032752 p.Asp179Asn Disease rs28931595 - Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033 pleiotropic VAR_002139 p.Val37Ile Disease rs72474224 0.0154 Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_069519 p.Asp117His Non-Disease - - -
P29033 pleiotropic VAR_069524 p.Ala148Pro Non-Disease - - -
P29033 pleiotropic VAR_015459 p.Thr123Asn Non-Disease rs111033188 0.0028 -
P29033 pleiotropic VAR_002146 p.Gly160Ser Non-Disease rs34988750 0.0 -
P29033 pleiotropic VAR_023616 p.Ile203Lys Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_060798 p.Asp46Glu Disease - - Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033 pleiotropic VAR_023614 p.Arg184Gln Disease - - Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
P29033 pleiotropic VAR_023608 p.Gln80Lys Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_015458 p.Thr86Arg Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_023617 p.Leu214Pro Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_023607 p.Leu79Pro Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_002137 p.Val27Ile Non-Disease rs2274084 0.1038 -
P29033 pleiotropic VAR_023613 p.Val178Ala Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_009969 p.Arg184Trp Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_009966 p.Glu114Gly Non-Disease rs2274083 0.0528 -
P29033 pleiotropic VAR_060799 p.His73Arg Disease - - Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]
P29033 pleiotropic VAR_023611 p.Glu129Lys Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_015460 p.Arg143Trp Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_015943 p.Arg184Pro Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_002141 p.Trp77Arg Disease - - Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290]
P29033 pleiotropic VAR_009970 p.Ile203Thr Non-Disease rs76838169 0.0147 -
P29033 pleiotropic VAR_009968 p.Cys169Tyr Non-Disease - - -
P29033 pleiotropic VAR_009965 p.Gly59Ala Disease - - Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350]
P29033 pleiotropic VAR_009967 p.Val153Ile Non-Disease rs111033186 0.0018 -
P29033 pleiotropic VAR_015461 p.Phe191Leu Non-Disease - - -
P29033 pleiotropic VAR_015939 p.Arg127His Non-Disease rs111033196 0.0023 -
P29033 pleiotropic VAR_032749 p.Trp44Ser Disease - - Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544]
O75712 pleiotropic VAR_002149 p.Cys86Ser Disease - - Erythrokeratodermia variabilis (EKV) [MIM:133200]
O75712 pleiotropic VAR_002147 p.Gly12Asp Disease - - Erythrokeratodermia variabilis (EKV) [MIM:133200]
O75712 pleiotropic VAR_015086 p.Phe137Leu Disease - - Erythrokeratodermia variabilis (EKV) [MIM:133200]
O75712 pleiotropic VAR_015085 p.Arg42Pro Disease - - Erythrokeratodermia variabilis (EKV) [MIM:133200]
O75712 pleiotropic VAR_011978 p.Arg32Trp Non-Disease rs1805063 0.0147 -
O75712 pleiotropic VAR_002148 p.Gly12Arg Disease - - Erythrokeratodermia variabilis (EKV) [MIM:133200]
O75712 pleiotropic VAR_015087 p.Ile141Val Disease - - Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]
O75712 pleiotropic VAR_002150 p.Glu183Lys Disease rs74315318 0.001 Deafness, autosomal dominant, 2B (DFNA2B) [MIM:612644]
O75712 pleiotropic VAR_022423 p.Val200Ile Non-Disease rs61734064 0.034 -
Q9NTQ9 non-pleiotropic VAR_015091 p.Cys169Trp Non-Disease rs79193415 0.0317 -