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 23 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
Q9UM73 non-pleiotropic VAR_041478 p.Val163Leu Non-Disease rs55697431 0.0009 -
Q9UM73 non-pleiotropic VAR_063854 p.Ile1171Asn Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_041488 p.Met1328Leu Non-Disease rs56160491 - -
Q9UM73 non-pleiotropic VAR_041482 p.Thr680Ile Non-Disease rs35228363 0.01 -
Q9UM73 non-pleiotropic VAR_041489 p.Lys1416Asn Non-Disease rs55782189 - -
Q9UM73 non-pleiotropic VAR_055988 p.Pro1599His Non-Disease rs1881423 0.0005 -
Q9UM73 non-pleiotropic VAR_063857 p.Phe1174Leu Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_063853 p.Met1166Arg Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_063866 p.Tyr1278Ser Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_041479 p.Glu296Gln Non-Disease rs56077855 0.0004 -
Q9UM73 non-pleiotropic VAR_063859 p.Arg1192Pro Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_063851 p.Gly1128Ala Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_041491 p.Gln1429Arg Non-Disease rs55906201 0.0002 -
Q9UM73 non-pleiotropic VAR_041486 p.Gly1121Asp Non-Disease rs55760835 - -
Q9UM73 non-pleiotropic VAR_041480 p.Val476Ala Non-Disease rs35093491 0.0161 -
Q9UM73 non-pleiotropic VAR_063865 p.Arg1275Gln Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_041483 p.Ala704Thr Non-Disease rs34829159 - -
Q9UM73 non-pleiotropic VAR_031042 p.Ile1461Val Non-Disease rs1670283 0.0069 -
Q9UM73 non-pleiotropic VAR_063852 p.Thr1151Met Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
Q9UM73 non-pleiotropic VAR_063863 p.Ile1250Thr Disease - - Neuroblastoma 3 (NBLST3) [MIM:613014]
O75342 non-pleiotropic VAR_069556 p.Tyr521Cys Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069547 p.Arg114Trp Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069554 p.Gly462Asp Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069548 p.Pro127Ser Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069550 p.Tyr318Cys Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_015174 p.His578Gln Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069553 p.Asn416Lys Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069557 p.Val527Met Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069555 p.Arg488His Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_015173 p.Leu426Pro Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_050000 p.Gly94Ser Non-Disease rs8077661 0.0051 -
O75342 non-pleiotropic VAR_069551 p.Lys382Glu Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069559 p.Ala664Pro Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069558 p.Ala597Glu Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069545 p.Leu24Pro Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069552 p.Thr383Met Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069549 p.Phe195Leu Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069560 p.Arg679Leu Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
O75342 non-pleiotropic VAR_069546 p.Ile67Phe Disease - - Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]
Q9BYJ1 non-pleiotropic VAR_015175 p.Arg396Ser Disease - - Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ1 non-pleiotropic VAR_015176 p.Val500Phe Disease - - Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ1 non-pleiotropic VAR_069562 p.Gly281Val Disease - - Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ1 non-pleiotropic VAR_069564 p.Leu427Pro Disease - - Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ1 non-pleiotropic VAR_069561 p.Leu237Met Disease - - Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
Q9BYJ1 non-pleiotropic VAR_069565 p.Pro630Leu Disease - - Ichthyosis, congenital, autosomal recessive 3 (ARCI3) [MIM:606545]
O95076 non-pleiotropic VAR_047475 p.Pro234Ala Non-Disease rs12749726 - -
O95076 non-pleiotropic VAR_063226 p.Leu168Val Disease - - Frontonasal dysplasia 1 (FND1) [MIM:136760]
O95076 non-pleiotropic VAR_063229 p.Asn203Ser Disease - - Frontonasal dysplasia 1 (FND1) [MIM:136760]
O95076 non-pleiotropic VAR_063228 p.Arg196Trp Disease rs121908170 0.0002 Frontonasal dysplasia 1 (FND1) [MIM:136760]
O95076 non-pleiotropic VAR_063227 p.Arg183Trp Disease - - Frontonasal dysplasia 1 (FND1) [MIM:136760]