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
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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 54 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q13698 pleiotropic VAR_046972 p.Leu1800Ser Non-Disease rs12139527 0.213 -
Q13698 pleiotropic VAR_001502 p.Arg1239His Disease rs28930068 - Periodic paralysis hypokalemic 1 (HOKPP1) [MIM:170400]
Q13698 pleiotropic VAR_046971 p.Arg1658His Non-Disease rs13374149 0.0895 -
Q13698 pleiotropic VAR_046973 p.Glu1840Asp Non-Disease rs1042379 - -
Q13698 pleiotropic VAR_001498 p.Leu458His Non-Disease rs12742169 0.1731 -
Q08289 non-pleiotropic VAR_044041 p.Ser535Leu Disease - - Brugada syndrome 4 (BRGDA4) [MIM:611876]
Q9Y698 non-pleiotropic VAR_066599 p.Val143Leu Disease - - Mental retardation, autosomal dominant 10 (MRD10) [MIM:614256]
P62158 non-pleiotropic VAR_048585 p.Met73Thr Non-Disease rs41389749 - -
P62158 non-pleiotropic VAR_069223 p.Asn98Ser Disease - - Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916]
P62158 non-pleiotropic VAR_069222 p.Asn54Ile Disease - - Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916]
Q96L12 non-pleiotropic VAR_027944 p.Leu8Phe Non-Disease rs11544148 - -
Q96L12 non-pleiotropic VAR_027945 p.Asp248Gly Non-Disease rs10411092 - -
Q96L12 non-pleiotropic VAR_065476 p.Lys82Arg Disease - - Cardiomyopathy, familial hypertrophic 19 (CMH19) [MIM:613875]
Q96L12 non-pleiotropic VAR_048589 p.Asp284Asn Non-Disease rs10404156 0.0018 -
Q96L12 non-pleiotropic VAR_027946 p.Val274Ile Non-Disease rs12459238 0.0418 -
Q8WVQ1 non-pleiotropic VAR_068660 p.Ser303Arg Disease - - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1 non-pleiotropic VAR_068662 p.Ala360Asp Disease - - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1 non-pleiotropic VAR_068663 p.Ile374Asn Disease - - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1 non-pleiotropic VAR_068664 p.Gly391Glu Non-Disease rs34082669 0.0023 -
Q8WVQ1 non-pleiotropic VAR_062982 p.Arg300His Disease - - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1 non-pleiotropic VAR_068657 p.Met165Thr Disease - - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1 non-pleiotropic VAR_068656 p.Trp125Cys Disease - - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1 non-pleiotropic VAR_062981 p.Arg300Cys Disease - - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1 non-pleiotropic VAR_068659 p.Val226Met Disease - - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1 non-pleiotropic VAR_068655 p.Asp112Glu Disease - - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1 non-pleiotropic VAR_068661 p.Ala323Thr Non-Disease rs9903215 0.011 -
Q8WVQ1 non-pleiotropic VAR_068658 p.Leu224Pro Disease rs150181226 - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
Q8WVQ1 non-pleiotropic VAR_062980 p.Pro299Leu Disease - - Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
P20807 non-pleiotropic VAR_009566 p.Thr232Ile Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_001365 p.Gly234Glu Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009584 p.Arg490Gln Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009577 p.Arg448Cys Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009576 p.Gly445Arg Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009593 p.Arg698Pro Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_001367 p.Arg490Trp Disease rs141656719 0.0002 Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009579 p.Arg448His Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_047691 p.Glu622Ala Non-Disease rs11557723 - -
P20807 non-pleiotropic VAR_001363 p.Leu182Gln Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009582 p.Arg489Gln Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009596 p.Asp705His Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009551 p.Ser86Phe Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009565 p.Glu226Lys Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009574 p.Arg440Trp Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009550 p.Asp77Asn Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009556 p.Ile162Leu Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009591 p.Ser606Leu Disease rs199806879 0.0002 Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_001366 p.Val354Gly Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009589 p.Gly567Trp Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009581 p.Gln486Glu Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]
P20807 non-pleiotropic VAR_009592 p.Gln638Pro Disease - - Limb-girdle muscular dystrophy 2A (LGMD2A) [MIM:253600]