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
RS2099118606 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099118735 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2099156375 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099187757 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099191297 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099199060 RIMS2 Health Risk Pathogenic Cone-rod synaptic disorder syndrome, congenital nonprogressive
RS2099203002 NEB Health Risk Pathogenic/Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy 2
RS2099254893 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099279723 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099348315 RIMS2 Health Risk Pathogenic Cone-rod synaptic disorder syndrome, congenital nonprogressive
RS2099350888 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2099384937 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099386045 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2099386610 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2099386637 NEB Health Risk Pathogenic Nemaline myopathy 2, NEB-related disorder
RS2099402392 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099408391 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099444326 CACNA1C Health Risk Likely pathogenic Timothy syndrome, Brugada syndrome 3
RS2099480203 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099513404 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099542243 NEB Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS2099555780 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2099590816 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2099599008 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099604443 NEB Health Risk Pathogenic Nemaline myopathy, Arthrogryposis multiplex congenita 6
RS2099738446 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2099740070 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2099762097 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099762296 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099780461 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099784151 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS2099785680 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2099795651 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Arthrogryposis multiplex congenita 6
RS2099887720 DIAPH1 Health Risk Likely pathogenic Neonatal seizure, Neonatal seizure
RS2099887774 DIAPH1 Health Risk Likely pathogenic —
RS2099888710 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS2099895754 DIAPH1 Health Risk Pathogenic Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS2099896905 DIAPH1 Health Risk Likely pathogenic Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS2100208563 BSND Health Risk Pathogenic —
RS2100221588 CASZ1 Health Risk Pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2100254713 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100254724 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS2100255111 CPT2 Health Risk Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100259785 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100261764 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100261898 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100261957 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, CPT2-related disorder
RS2100267180 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS2100271968 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100272595 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100272626 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100272735 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100272823 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100273480 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100273520 CPT2 Health Risk Likely pathogenic —
RS2100273567 CPT2 Health Risk Likely pathogenic —
RS2100274025 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100274299 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100274755 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100279176 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2100280270 PADI6 Health Risk Pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS2100280361 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS2100297230 PADI6 Health Risk Pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS2100315804 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS2100316317 PADI6 Health Risk Pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS2100320097 PADI6 Health Risk Likely pathogenic —
RS2100323377 MTOR Health Risk Likely pathogenic —
RS2100332594 PADI6 Health Risk Pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS2100332723 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100343401 PCSK9 Health Risk Likely pathogenic Hypercholesterolemia, autosomal dominant
RS2100356600 MTOR Health Risk Conflicting classifications of pathogenicity —
RS2100362712 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100362899 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100363479 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100363487 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100363563 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100365750 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100365770 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100365813 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100365905 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100365911 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100365971 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100366089 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100370448 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100377758 WLS Health Risk Likely pathogenic WLS syndrome, Zaki syndrome
RS2100382837 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2100389603 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100396600 MTOR Health Risk Likely pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS2100402606 MTOR Health Risk Likely pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS2100405990 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2100407767 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100408169 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2100412885 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2100414066 NFIA Health Risk Pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS2100414085 NFIA Health Risk Likely pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS2100414172 NFIA Health Risk Likely pathogenic Chromosome 1p32-p31 deletion syndrome, Chromosome 1p32-p31 deletion syndrome
RS2100414291 NFIA Health Risk Pathogenic —
RS2100414350 NFIA Health Risk Pathogenic Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects
RS2100414567 MTOR Health Risk Likely pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS2100414587 NFIA Health Risk Pathogenic —
« Prev 1 ... 1624 1625 1626 1627 1628 1629 1630 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →