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 89 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P29400 non-pleiotropic VAR_001923 p.Gly325Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001962 p.Gly1379Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_007996 p.Gly561Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_007991 p.Gly114Ser Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011288 p.Arg1511His Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001957 p.Gly1143Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_008015 p.Gly1486Ala Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001924 p.Gly325Arg Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001948 p.Gly740Glu Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001947 p.Gly684Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_011246 p.Gly629Asp Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
P29400 non-pleiotropic VAR_001942 p.Gly609Val Disease - - Alport syndrome, X-linked (APSX) [MIM:301050]
Q14031 non-pleiotropic VAR_059242 p.Ser455Pro Non-Disease rs1042065 0.4111 -
Q14031 non-pleiotropic VAR_015217 p.Asn1110Lys Non-Disease rs1042067 - -
Q14031 non-pleiotropic VAR_032972 p.Pro1126Ser Non-Disease rs35179844 0.029 -
Q14031 non-pleiotropic VAR_032974 p.Leu1362Pro Non-Disease rs35363062 0.026 -
Q14031 non-pleiotropic VAR_015216 p.Ser455Ala Non-Disease rs1042065 0.4268 -
Q14031 non-pleiotropic VAR_032973 p.Ile1162Val Non-Disease rs34466065 0.0302 -
Q14031 non-pleiotropic VAR_070936 p.Gly591Ser Disease - - Deafness, X-linked, 6 (DFNX6) [MIM:300914]
P05997 non-pleiotropic VAR_013588 p.Gly963Arg Disease - - Ehlers-Danlos syndrome 2 (EDS2) [MIM:130010]
P05997 non-pleiotropic VAR_057913 p.Asp1432Val Non-Disease - - -
P05997 non-pleiotropic VAR_057911 p.Pro833Leu Non-Disease rs116298748 0.0092 -
P05997 non-pleiotropic VAR_048800 p.Arg956Pro Non-Disease rs6434313 0.0018 -
P05997 non-pleiotropic VAR_057910 p.Val512Ala Non-Disease rs35852101 0.0147 -
P05997 non-pleiotropic VAR_048799 p.Pro460Ser Non-Disease rs35830636 0.0156 -
P05997 non-pleiotropic VAR_057912 p.Thr1230Ser Non-Disease - - -
Q9BWP8 non-pleiotropic VAR_065902 p.Gly204Ser Disease - - 3MC syndrome 2 (3MC2) [MIM:265050]
Q9BWP8 non-pleiotropic VAR_065901 p.Ser169Pro Disease - - 3MC syndrome 2 (3MC2) [MIM:265050]
Q9BWP8 non-pleiotropic VAR_038143 p.His219Arg Non-Disease rs7567833 0.1915 -
Q9Y215 non-pleiotropic VAR_010136 p.Tyr430Ser Disease - - Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034]
Q9Y215 non-pleiotropic VAR_010137 p.Cys444Tyr Disease - - Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034]
Q9Y215 non-pleiotropic VAR_010135 p.Arg410Gln Disease - - Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034]
Q9Y215 non-pleiotropic VAR_010133 p.Pro59Gln Disease - - Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034]
Q9Y215 non-pleiotropic VAR_048809 p.Ser312Gly Non-Disease rs6782980 0.0386 -
Q9Y215 non-pleiotropic VAR_010134 p.Asp342Glu Disease - - Myasthenic syndrome, congenital, Engel type (CMSE) [MIM:603034]
Q96H96 pleiotropic VAR_070248 p.Ser297Cys Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_068163 p.Asn178Ser Disease - - Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
Q96H96 pleiotropic VAR_068161 p.Ser96Asn Disease - - Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]
Q96H96 pleiotropic VAR_070240 p.Pro49His Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_070243 p.Met78Val Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_070239 p.Phe29Leu Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_070250 p.Arg337Gln Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_070245 p.Pro107Ser Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_070249 p.Asn336His Non-Disease - - -
Q96H96 pleiotropic VAR_070247 p.Thr267Ala Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_070251 p.Val343Ala Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_070242 p.Arg69His Non-Disease - - -
Q96H96 pleiotropic VAR_070244 p.Ile97Thr Disease - - Multiple system atrophy 1 (MSA1) [MIM:146500]
Q96H96 pleiotropic VAR_070237 p.Leu16Val Non-Disease rs6818847 0.3502 -
Q96H96 pleiotropic VAR_068162 p.Arg147His Disease - - Coenzyme Q10 deficiency, primary, 1 (COQ10D1) [MIM:607426]