SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS121909543 ANG;EGILA;RNASE4 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 9, ANG-related disorder
RS121909544 ANG Health Risk Pathogenic Amyotrophic lateral sclerosis type 9, Amyotrophic lateral sclerosis type 9
RS121909546 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909547 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909548 SERPINC1 Health Risk Conflicting classifications of pathogenicity Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909549 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909550 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909551 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909552 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, SERPINC1-related disorder
RS121909554 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909555 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909557 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909558 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909560 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909561 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909562 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909563 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909564 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909567 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Deep venous thrombosis
RS121909569 SERPINC1 Health Risk Likely pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909570 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909571 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909572 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909573 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS121909574 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Inborn genetic diseases
RS121909575 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS121909577 CA1 Health Risk Pathogenic Carbonic anhydrase I, Guam
RS121909578 CA1 Health Risk Pathogenic Carbonic anhydrase I deficiency, Carbonic anhydrase I deficiency
RS121909579 CP Health Risk Pathogenic Deficiency of ferroxidase, Deficiency of ferroxidase
RS121909580 CHRNA4 Health Risk Pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy
RS121909581 C1QA Health Risk Pathogenic C1Q deficiency, C1Q deficiency
RS121909583 C3 Health Risk Pathogenic/Likely pathogenic Atypical hemolytic-uremic syndrome with C3 anomaly, Familial Atypical Hemolytic-Uremic Syndrome
RS121909584 C3 Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome
RS121909585 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Atypical hemolytic-uremic syndrome
RS121909587 C5 Health Risk Pathogenic Complement component 5 deficiency, Eculizumab
RS121909588 C5 Health Risk Pathogenic Complement component 5 deficiency, Eculizumab
RS121909589 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS121909590 CD46 Health Risk Pathogenic/Likely pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS121909591 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS121909592 C9 Health Risk Pathogenic/Likely pathogenic Complement component 9 deficiency, Thyroid cancer
RS121909593 C9 Health Risk Conflicting classifications of pathogenicity Complement component 9 deficiency, Age related macular degeneration 15
RS121909594 C9 Health Risk Pathogenic Complement component 9 deficiency, Complement component 9 deficiency
RS121909595 CRYGD Health Risk Pathogenic Cataract 4 multiple types, Aculeiform cataract
RS121909596 CRYGD Health Risk Pathogenic Cataract 4 multiple types, Aculeiform cataract
RS121909597 CRYGD Health Risk Pathogenic Cataract 4 multiple types, Aculeiform cataract
RS121909598 CRYGD Health Risk Pathogenic Cataract 4 multiple types, Cataract 4 multiple types
RS121909599 CNGA1 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS121909600 CNGA1 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS121909601 IL10RB Health Risk Pathogenic Inflammatory bowel disease 25, Inflammatory bowel disease 25
RS121909602 COX6B1 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS121909603 CD55 Health Risk Pathogenic Cromer blood group system, Cromer blood group system
RS121909605 FGA Health Risk Conflicting classifications of pathogenicity FIBRINOGEN ROUEN 1, Familial dysfibrinogenemia
RS121909606 FGA Health Risk Pathogenic Dysfibrinogenemia, Familial dysfibrinogenemia
RS121909607 FGA Health Risk Pathogenic Dysfibrinogenemia, Hypofibrinogenemia
RS121909608 FGA Health Risk Likely pathogenic FIBRINOGEN AARHUS 1, Hypofibrinogenemia
RS121909612 FGA Health Risk Pathogenic Familial visceral amyloidosis, Ostertag type
RS121909613 FGA Health Risk Likely pathogenic FIBRINOGEN DUSART, Deep venous thrombosis
RS121909614 FGA Health Risk Pathogenic FIBRINOGEN CANTERBURY, FIBRINOGEN CANTERBURY
RS121909616 FGB Health Risk Likely pathogenic FIBRINOGEN CHRISTCHURCH 2, Hypofibrinogenemia
RS121909621 FGB Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS121909622 FGB Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS121909624 FGB Health Risk Pathogenic Congenital afibrinogenemia, Congenital afibrinogenemia
RS121909625 FGB Health Risk Pathogenic/Likely pathogenic Congenital afibrinogenemia, Hypofibrinogenemia
RS121909626 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS121909627 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Jackson-Weiss syndrome
RS121909628 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS121909629 FGFR1 Health Risk risk factor Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with anosmia
RS121909630 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with anosmia
RS121909631 FGFR1 Health Risk Pathogenic Osteoglophonic dysplasia, Osteoglophonic dysplasia
RS121909632 FGFR1 Health Risk Pathogenic Osteoglophonic dysplasia, Osteoglophonic dysplasia
RS121909633 FGFR1 Health Risk Conflicting classifications of pathogenicity Trigonocephaly 1, 7 conditions
RS121909634 FGFR1 Health Risk Pathogenic/Likely pathogenic Osteoglophonic dysplasia, Pfeiffer syndrome
RS121909635 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, FGFR1-related disorder
RS121909636 FGFR1 Health Risk Pathogenic/Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Delayed puberty
RS121909637 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS121909638 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS121909639 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS121909640 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, FGFR1-related disorder
RS121909641 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS121909642 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with anosmia, Hypogonadotropic hypogonadism 2 with anosmia
RS121909643 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS121909645 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS121909646 FLT3 Health Risk Pathogenic Acute myeloid leukemia, Acute lymphoid leukemia
RS121909650 FLT4 Health Risk Pathogenic/Likely pathogenic Hereditary lymphedema type I, FLT4-related disorder
RS121909651 FLT4 Health Risk Pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS121909652 FLT4 Health Risk Likely pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS121909653 FLT4 Health Risk Pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS121909654 FLT4 Health Risk Pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS121909655 FLT4 Health Risk Pathogenic/Likely pathogenic Hereditary lymphedema type I, FLT4-related disorder
RS121909656 FLT4 Health Risk Pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS121909658 FSHR Health Risk Pathogenic Ovarian dysgenesis 1, Ovarian dysgenesis 1
RS121909659 FSHR Health Risk Conflicting classifications of pathogenicity Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome
RS121909660 FSHR Health Risk Pathogenic Ovarian dysgenesis 1, Ovarian dysgenesis 1
RS121909661 FSHR Health Risk Pathogenic Ovarian dysgenesis 1, Ovarian dysgenesis 1
RS121909662 FSHR Health Risk Pathogenic Ovarian dysgenesis 1, Ovarian dysgenesis 1
RS121909663 FSHR Health Risk Pathogenic Ovarian hyperstimulation syndrome, Ovarian hyperstimulation syndrome
RS121909664 FSHR Health Risk Pathogenic Ovarian hyperstimulation syndrome, Ovarian hyperstimulation syndrome
RS121909665 FSHR Health Risk Pathogenic Ovarian hyperstimulation syndrome, Ovarian hyperstimulation syndrome
RS121909666 FSHB Health Risk Pathogenic Hypogonadotropic hypogonadism 24 without anosmia, Hypogonadotropic hypogonadism 24 without anosmia
RS121909667 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis 6, autosomal recessive
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