SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS80356690 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS80356691 CLCN1 Health Risk Pathogenic Batten-Turner congenital myopathy, Congenital myotonia
RS80356692 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS80356694 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS80356695 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS80356696 CLCN1 Health Risk Pathogenic/Likely pathogenic Myotonia levior, Batten-Turner congenital myopathy
RS80356697 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS80356699 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS80356700 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS80356701 CLCN1 Health Risk Pathogenic Batten-Turner congenital myopathy, Congenital myotonia
RS80356702 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS80356703 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS80356704 CLCN1 Health Risk Pathogenic Batten-Turner congenital myopathy, Congenital myotonia
RS80356708 GRHPR Health Risk Pathogenic Primary hyperoxaluria, type II
RS80356710 PRNP Health Risk Pathogenic CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
RS80356711 PRNP Health Risk Pathogenic CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED
RS80356713 ABCB7 Health Risk Likely pathogenic X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with ataxia
RS80356714 ABCB7 Health Risk Pathogenic X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with ataxia
RS80356715 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356717 TARDBP Health Risk Pathogenic Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10
RS80356718 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356719 TARDBP Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 10, Motor neuron disease
RS80356721 MASP2;TARDBP Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356723 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356725 TARDBP Health Risk Likely pathogenic FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
RS80356726 TARDBP Health Risk Pathogenic Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356727 TARDBP Health Risk Pathogenic Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10
RS80356730 TARDBP Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356731 TARDBP Health Risk Pathogenic Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10
RS80356732 TARDBP Health Risk Pathogenic FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
RS80356733 TARDBP Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356734 TARDBP Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356740 TARDBP Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356741 TARDBP Health Risk Conflicting classifications of pathogenicity TARDBP-related disorder, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356742 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS80356750 ATP6V0A2 Health Risk Pathogenic Cutis laxa with osteodystrophy, Cutis laxa
RS80356751 ATP6V0A2 Health Risk Pathogenic Wrinkly skin syndrome, Cutis laxa with osteodystrophy
RS80356753 ATP6V0A2 Health Risk Pathogenic Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS80356755 ATP6V0A2 Health Risk Pathogenic Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS80356756 ATP6V0A2 Health Risk Likely pathogenic Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy
RS80356758 ATP6V0A2 Health Risk Pathogenic Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS80356763 GBA1 Health Risk Conflicting classifications of pathogenicity Gaucher disease perinatal lethal, Gaucher disease
RS80356768 GBA1 Health Risk Pathogenic Gaucher disease perinatal lethal, Gaucher disease
RS80356769 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease type III, Gaucher disease type I
RS80356771 GBA1 Health Risk Pathogenic Gaucher disease type II, Gaucher disease type III
RS80356772 GBA1 Health Risk Pathogenic/Likely pathogenic Gaucher disease, Gaucher disease type I
RS80356774 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356775 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356776 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356777 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356778 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356779 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, CPT1A ARCTIC VARIANT
RS80356780 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356782 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356783 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356784 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356787 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356790 CPT1A Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356791 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356798 CPT1A Health Risk Likely pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356800 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS80356804 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS80356807 LMNA Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1A, Charcot-Marie-Tooth disease type 2
RS80356812 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Charcot-Marie-Tooth disease type 2
RS80356820 HBB Health Risk Pathogenic/Likely pathogenic Beta zero thalassemia, beta Thalassemia
RS80356821 HBB Health Risk Pathogenic/Likely pathogenic Beta zero thalassemia, beta Thalassemia
RS80356830 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS80356832 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80356835 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS80356838 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356848 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS80356849 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS80356853 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80356854 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356857 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS80356858 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS80356859 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356860 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS80356861 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80356862 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS80356863 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356864 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80356865 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80356866 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80356867 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80356868 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356869 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356870 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80356872 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS80356873 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356875 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356877 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356878 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356879 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80356880 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS80356881 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS80356884 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80356885 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS80356887 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS80356888 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
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