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
RS137852623 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy
RS137852624 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS137852625 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS137852626 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS137852627 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS137852628 KRT2 Health Risk Pathogenic Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
RS137852629 KRT2 Health Risk Pathogenic Ichthyosis bullosa of Siemens, Exfoliative ichthyosis
RS137852630 KRT2 Health Risk Pathogenic Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
RS137852631 KRT2 Health Risk Pathogenic Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
RS137852632 KRT2 Health Risk Pathogenic Ichthyosis bullosa of Siemens, Ichthyosis bullosa of Siemens
RS137852633 GCH1 Health Risk Pathogenic Dystonia, dopa-responsive
RS137852634 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS137852635 SCNN1A Health Risk Likely pathogenic Pseudohypoaldosteronism, type IB1
RS137852636 HMGCS2 Health Risk Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS137852637 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, HMGCS2-related disorder
RS137852638 HMGCS2 Health Risk Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS137852639 HMGCS2 Health Risk Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS137852640 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS137852641 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS137852642 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS137852643 GARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2
RS137852644 GARS1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS137852645 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease
RS137852646 GARS1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS137852647 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Neuronopathy
RS137852648 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2D
RS137852649 ACADSB Health Risk Pathogenic Deficiency of 2-methylbutyryl-CoA dehydrogenase, Deficiency of 2-methylbutyryl-CoA dehydrogenase
RS137852650 COMP Health Risk Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS137852651 COMP Health Risk Pathogenic Multiple epiphyseal dysplasia type 1, Abnormality of the skeletal system
RS137852652 COMP Health Risk Pathogenic Epiphyseal dysplasia, multiple
RS137852653 COMP Health Risk Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS137852654 COMP Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 1, Multiple epiphyseal dysplasia
RS137852655 COMP Health Risk Pathogenic/Likely pathogenic Pseudoachondroplasia, severe
RS137852656 COMP Health Risk Pathogenic Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS137852657 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS137852659 FGF8 Health Risk Pathogenic Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia
RS137852660 FGF8 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia
RS137852661 FGF8 Health Risk Pathogenic Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia
RS137852662 FGF8 Health Risk Pathogenic Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia
RS137852663 FGF8 Health Risk Pathogenic Hypogonadotropic hypogonadism 6 with or without anosmia, Hypogonadotropic hypogonadism 6 with or without anosmia
RS137852664 FGF8 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 6 with or without anosmia, Holoprosencephaly 1
RS137852665 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS137852666 IGHMBP2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS137852667 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS137852668 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS137852669 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS137852670 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Autosomal recessive distal spinal muscular atrophy 1
RS137852671 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS137852672 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS137852673 ABCC8 Health Risk Pathogenic/Likely pathogenic Type 2 diabetes mellitus, Diabetes mellitus
RS137852674 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Diabetes mellitus
RS137852675 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS137852676 ABCC8 Health Risk Pathogenic/Likely pathogenic Diabetes mellitus, permanent neonatal 3
RS137852677 STAT1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS137852678 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS137852679 STAT1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS137852680 STAT1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS137852682 CLCN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS137852683 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrioventricular septal defect
RS137852686 NKX2-5 Health Risk Pathogenic Atrioventricular septal defect, somatic
RS137852687 KLF1 Health Risk Pathogenic BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR
RS137852688 KLF1 Health Risk Likely pathogenic BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR
RS1378526888 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS137852689 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS137852690 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS137852691 OPCML Health Risk Pathogenic Ovarian neoplasm, Ovarian neoplasm
RS137852692 NKX2-1 Health Risk Pathogenic Brain-lung-thyroid syndrome, Brain-lung-thyroid syndrome
RS137852693 NKX2-1 Health Risk Pathogenic/Likely pathogenic Brain-lung-thyroid syndrome, Inborn genetic diseases
RS137852694 NKX2-1 Health Risk Pathogenic Benign hereditary chorea, Benign hereditary chorea
RS137852695 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Inborn genetic diseases
RS137852696 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Retinitis pigmentosa
RS137852697 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS137852698 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS137852699 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Inborn genetic diseases
RS137852700 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal Ceroid-Lipofuscinosis
RS137852701 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS137852702 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS137852704 SCNN1B Health Risk Pathogenic Liddle syndrome 1, Bronchiectasis with or without elevated sweat chloride 1
RS137852707 SCNN1B Health Risk Pathogenic Liddle syndrome 1, Liddle syndrome 1
RS137852708 SCNN1B Health Risk Pathogenic/Likely pathogenic Liddle syndrome 1, Bronchiectasis with or without elevated sweat chloride 1
RS137852709 SCNN1B Health Risk Likely pathogenic Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism
RS137852710 SCNN1B Health Risk Pathogenic Bronchiectasis with or without elevated sweat chloride 1, Bronchiectasis with or without elevated sweat chloride 1
RS137852714 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Inborn genetic diseases
RS137852715 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS137852716 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS137852717 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS137852718 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS137852720 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Inborn genetic diseases
RS137852721 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS137852722 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS137852724 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS137852725 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS137852726 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS137852727 EHMT1 Health Risk Pathogenic/Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS137852728 CEBPA Health Risk Pathogenic Acute myeloid leukemia, Acute myeloid leukemia
RS137852734 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS137852735 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS137852736 RETREG1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Neuropathy
RS137852737 RETREG1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS137852738 RETREG1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Neuropathy
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