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 99 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P14868 non-pleiotropic VAR_070045 p.Arg494Gly Disease - - Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281]
Q6PI48 non-pleiotropic VAR_037016 p.Cys152Phe Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48 non-pleiotropic VAR_037023 p.Leu626Gln Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48 non-pleiotropic VAR_037018 p.Gln184Lys Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48 non-pleiotropic VAR_037020 p.Arg263Gln Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48 non-pleiotropic VAR_037017 p.Arg179His Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48 non-pleiotropic VAR_037025 p.Tyr629Cys Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48 non-pleiotropic VAR_037021 p.Asp560Val Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48 non-pleiotropic VAR_037015 p.Ser45Gly Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48 non-pleiotropic VAR_027612 p.Leu10Val Non-Disease rs4427454 - -
Q6PI48 non-pleiotropic VAR_034525 p.Lys196Arg Non-Disease rs35515638 0.0188 -
Q6PI48 non-pleiotropic VAR_037019 p.Gln248Lys Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48 non-pleiotropic VAR_037024 p.Leu626Val Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
Q6PI48 non-pleiotropic VAR_037022 p.Leu613Phe Disease - - Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
P09172 non-pleiotropic VAR_014706 p.Glu181Gln Non-Disease rs5319 - -
P09172 non-pleiotropic VAR_022758 p.Val101Met Disease - - Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
P09172 non-pleiotropic VAR_014709 p.Asp290Asn Non-Disease rs5324 0.0248 -
P09172 non-pleiotropic VAR_022760 p.Asp345Asn Disease - - Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
P09172 non-pleiotropic VAR_013947 p.Ala211Thr Non-Disease rs5320 0.1056 -
P09172 non-pleiotropic VAR_014707 p.Lys239Asn Non-Disease rs5321 0.0 -
P09172 non-pleiotropic VAR_022759 p.Asp114Glu Disease - - Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
P09172 non-pleiotropic VAR_048838 p.Gly12Ser Non-Disease rs5318 - -
P09172 non-pleiotropic VAR_014708 p.Glu250Gln Non-Disease rs5323 - -
P09172 non-pleiotropic VAR_013948 p.Arg549Cys Non-Disease rs6271 0.0321 -
P09172 non-pleiotropic VAR_002196 p.Ala318Ser Non-Disease rs4531 0.0629 -
P09172 non-pleiotropic VAR_014710 p.Leu317Pro Non-Disease rs5325 - -
P11182 non-pleiotropic VAR_015099 p.Ile98Met Disease - - Maple syrup urine disease 2 (MSUD2) [MIM:248600]
P11182 non-pleiotropic VAR_004978 p.Phe276Cys Disease - - Maple syrup urine disease 2 (MSUD2) [MIM:248600]
P11182 non-pleiotropic VAR_015100 p.Gly384Ser Disease rs12021720 0.1082 Maple syrup urine disease 2 (MSUD2) [MIM:248600]
Q96JQ0 non-pleiotropic VAR_070928 p.Asn2370Ile Disease - - Van Maldergem syndrome 1 (VMLDS1) [MIM:601390]
Q96JQ0 non-pleiotropic VAR_048577 p.Thr1949Met Non-Disease rs4758443 0.3338 -
Q96JQ0 non-pleiotropic VAR_061074 p.Leu2172Gln Non-Disease rs56920123 0.0271 -
Q96JQ0 non-pleiotropic VAR_048578 p.Val2331Ile Non-Disease rs7924553 0.0312 -
Q96JQ0 non-pleiotropic VAR_048579 p.Arg2359Cys Non-Disease rs2659875 0.0129 -
Q92466 non-pleiotropic VAR_016338 p.Ala293Thr Non-Disease rs4647751 - -
Q92466 non-pleiotropic VAR_016337 p.Met215Thr Non-Disease rs4647750 0.0009 -
Q92466 non-pleiotropic VAR_010142 p.Arg273His Disease - - Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]
Q92466 non-pleiotropic VAR_010141 p.Lys244Glu Disease - - Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740]
P20711 non-pleiotropic VAR_046138 p.Ala91Val Disease - - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711 non-pleiotropic VAR_019309 p.Gly102Ser Disease - - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711 non-pleiotropic VAR_014790 p.Met217Val Non-Disease rs6263 0.0399 -
P20711 non-pleiotropic VAR_014788 p.Met17Val Non-Disease rs6264 0.0078 -
P20711 non-pleiotropic VAR_046137 p.Pro47His Disease - - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711 non-pleiotropic VAR_046140 p.Ser250Phe Disease - - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711 non-pleiotropic VAR_046139 p.Ser147Arg Disease - - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711 non-pleiotropic VAR_019217 p.Arg462Gln Non-Disease rs11575542 0.0459 -
P20711 non-pleiotropic VAR_046142 p.Phe309Leu Disease - - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711 non-pleiotropic VAR_046144 p.Leu408Ile Disease - - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711 non-pleiotropic VAR_046141 p.Ala275Thr Disease - - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]
P20711 non-pleiotropic VAR_046143 p.Arg347Gln Disease - - Aromatic L-amino-acid decarboxylase deficiency (AADCD) [MIM:608643]