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 203 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P56696 non-pleiotropic VAR_058971 p.His455Gln Non-Disease rs34287852 0.112 -
P56696 non-pleiotropic VAR_010937 p.Leu281Ser Disease - - Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696 non-pleiotropic VAR_008728 p.Gly321Ser Disease rs28939710 - Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696 non-pleiotropic VAR_008727 p.Gly285Cys Disease - - Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696 non-pleiotropic VAR_008726 p.Trp276Ser Disease - - Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696 non-pleiotropic VAR_065779 p.Gly287Arg Disease - - Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
P56696 non-pleiotropic VAR_010936 p.Leu274His Disease - - Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101]
Q8TDN2 non-pleiotropic VAR_027638 p.Leu533Val Non-Disease rs12352254 0.1286 -
Q8TDN2 non-pleiotropic VAR_027634 p.Ser256Trp Disease - - Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
Q8TDN2 non-pleiotropic VAR_027637 p.Gly459Asp Disease - - Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
Q8TDN2 non-pleiotropic VAR_027633 p.Trp188Cys Disease - - Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
Q8TDN2 non-pleiotropic VAR_027632 p.Leu126Gln Disease - - Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
Q8TDN2 non-pleiotropic VAR_027635 p.Ala259Val Disease - - Cone dystrophy retinal 3B (RCD3B) [MIM:610356]
Q719H9 non-pleiotropic VAR_069972 p.Pro31Leu Disease - - Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9 non-pleiotropic VAR_069976 p.His33Gln Disease - - Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9 non-pleiotropic VAR_069974 p.Pro31Ser Disease - - Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9 non-pleiotropic VAR_069977 p.Gly62Asp Disease - - Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9 non-pleiotropic VAR_069971 p.Ala30Glu Disease - - Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9 non-pleiotropic VAR_069978 p.His74Pro Disease - - Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9 non-pleiotropic VAR_069973 p.Pro31Arg Disease - - Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q719H9 non-pleiotropic VAR_049722 p.Leu107Trp Non-Disease rs491684 - -
Q719H9 non-pleiotropic VAR_069975 p.His33Pro Disease - - Scalp-ear-nipple syndrome (SENS) [MIM:181270]
Q96MP8 non-pleiotropic VAR_068777 p.Leu108Met Disease - - Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]
Q96MP8 non-pleiotropic VAR_068780 p.Asn273Ile Disease - - Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]
Q96MP8 non-pleiotropic VAR_068776 p.Arg94Trp Disease - - Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]
Q96MP8 non-pleiotropic VAR_068779 p.Arg184Cys Disease - - Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726]
P41229 non-pleiotropic VAR_032988 p.Phe642Leu Disease - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229 non-pleiotropic VAR_032986 p.Asp87Gly Disease - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229 non-pleiotropic VAR_032989 p.Arg750Trp Disease - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229 non-pleiotropic VAR_032987 p.Ser451Arg Disease - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229 non-pleiotropic VAR_022732 p.Glu698Lys Disease - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229 non-pleiotropic VAR_022730 p.Ala388Pro Disease - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229 non-pleiotropic VAR_022733 p.Leu731Phe Disease - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229 non-pleiotropic VAR_022731 p.Asp402Tyr Disease - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
P41229 non-pleiotropic VAR_032990 p.Tyr751Cys Disease - - Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) [MIM:300534]
O60938 non-pleiotropic VAR_012753 p.Thr215Lys Disease - - The autosomal recessive cornea plana 2 (CNA2) [MIM:217300]
O60938 non-pleiotropic VAR_013564 p.Val235Gly Non-Disease rs737111 - -
O60938 non-pleiotropic VAR_012754 p.Asn247Ser Disease - - The autosomal recessive cornea plana 2 (CNA2) [MIM:217300]
P50053 non-pleiotropic VAR_006073 p.Ala43Thr Disease - - Fructosuria (FRUCT) [MIM:229800]
P50053 non-pleiotropic VAR_006072 p.Gly40Arg Disease - - Fructosuria (FRUCT) [MIM:229800]
P50053 non-pleiotropic VAR_006075 p.Arg159Gly Non-Disease - - -
P50053 non-pleiotropic VAR_006074 p.Val49Ile Non-Disease rs2304681 0.3402 -
Q12768 non-pleiotropic VAR_031956 p.Leu619Phe Disease - - Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
Q12768 non-pleiotropic VAR_031957 p.Val626Phe Disease - - Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
Q12768 non-pleiotropic VAR_031955 p.Asn471Asp Disease - - Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
Q12768 non-pleiotropic VAR_069985 p.Gly696Ala Disease - - Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
Q12768 non-pleiotropic VAR_069984 p.Ile226Thr Disease - - Spastic paraplegia 8, autosomal dominant (SPG8) [MIM:603563]
P52732 non-pleiotropic VAR_067830 p.Arg234Cys Disease - - Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
P52732 non-pleiotropic VAR_067829 p.Phe144Leu Disease - - Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
P52732 non-pleiotropic VAR_067831 p.Ser235Cys Disease - - Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]