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 189 of 403)

UniProt Protein Type Variant ID Variation Variant Type RsID MAF Disease
P38935 non-pleiotropic VAR_022330 p.Glu514Lys Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022337 p.Arg603His Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_058498 p.Gln196Arg Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_058502 p.His445Pro Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_058503 p.Leu472Pro Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022325 p.Glu334Lys Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022324 p.Cys241Arg Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022333 p.Leu577Pro Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_058506 p.Arg603Cys Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_058504 p.Thr493Ile Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_058499 p.Pro216Leu Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022335 p.Asn583Ile Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022336 p.Gly586Cys Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022329 p.Leu426Pro Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_021899 p.Arg694Trp Non-Disease rs2236654 0.1671 -
P38935 non-pleiotropic VAR_058501 p.Trp386Arg Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022339 p.Thr879Lys Disease rs17612126 0.1971 Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_055226 p.Pro557Ala Non-Disease rs7122089 0.0009 -
P38935 non-pleiotropic VAR_022340 p.Asp974Glu Disease rs147674615 0.0004 Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_058500 p.Leu251Pro Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022321 p.Leu192Pro Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022331 p.Asp565Asn Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_024243 p.Ile275Val Non-Disease rs10896380 0.157 -
P38935 non-pleiotropic VAR_022322 p.His213Arg Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022327 p.Leu364Pro Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022323 p.Thr221Ala Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_024242 p.Leu201Ser Non-Disease rs560096 0.2975 -
P38935 non-pleiotropic VAR_058497 p.Leu17Pro Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022328 p.Glu382Lys Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_022334 p.Val580Ile Disease - - Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
P38935 non-pleiotropic VAR_020147 p.Thr671Ala Non-Disease rs622082 0.2222 -
P01834 non-pleiotropic VAR_066403 p.Trp40Arg Disease - - Immunoglobulin kappa light chain deficiency (IGKCD) [MIM:614102]
P15814 non-pleiotropic VAR_059392 p.Arg189His Non-Disease rs8138122 0.0399 -
P15814 non-pleiotropic VAR_034869 p.Pro142Leu Disease rs1064422 0.0004 Agammaglobulinemia 2, autosomal recessive (AGM2) [MIM:613500]
P15814 non-pleiotropic VAR_049878 p.Pro120Leu Non-Disease rs1064425 - -
Q8N6C5 non-pleiotropic VAR_054960 p.Asn381His Non-Disease rs6637826 0.0012 -
Q8N6C5 non-pleiotropic VAR_069270 p.Ser858Phe Disease - - Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]
Q8N6C5 non-pleiotropic VAR_069269 p.Ser765Asn Disease - - Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]
Q8N6C5 non-pleiotropic VAR_069271 p.Cys942Arg Disease - - Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]
Q14623 pleiotropic VAR_015986 p.Val190Ala Disease - - Acrocapitofemoral dysplasia (ACFD) [MIM:607778]
Q14623 pleiotropic VAR_015983 p.Asp100Glu Disease - - Brachydactyly A1 (BDA1) [MIM:112500]
Q14623 pleiotropic VAR_015981 p.Pro46Leu Disease - - Acrocapitofemoral dysplasia (ACFD) [MIM:607778]
Q14623 pleiotropic VAR_015982 p.Glu95Lys Disease - - Brachydactyly A1 (BDA1) [MIM:112500]
Q14623 pleiotropic VAR_015985 p.Glu131Lys Disease - - Brachydactyly A1 (BDA1) [MIM:112500]
Q14623 pleiotropic VAR_015984 p.Asp100Asn Disease rs28936377 - Brachydactyly A1 (BDA1) [MIM:112500]
O95163 non-pleiotropic VAR_011327 p.Arg696Pro Disease - - Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900]
O95163 non-pleiotropic VAR_047484 p.Lys952Ile Non-Disease rs2230798 0.0179 -
O95163 non-pleiotropic VAR_047480 p.Gly765Glu Non-Disease rs2230792 0.2778 -
O95163 non-pleiotropic VAR_047483 p.Thr848Asn Non-Disease rs10979599 0.0014 -
O95163 non-pleiotropic VAR_047482 p.Ile830Met Non-Disease rs2230794 0.0799 -