| 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 |