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
RS1430436552 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS143043662 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS143045192 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1430464721 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS143046723 S1PR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1430474816 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1430478589 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS143048583 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS143049136 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS143049227 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1430492924 PCLO Health Risk Pathogenic —
RS143049345 TPH1 Health Risk Conflicting classifications of pathogenicity —
RS143049740 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS143049891 DDB2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group E
RS143050366 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1430509325 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS1430510939 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS143051164 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Monogenic diabetes
RS1430513260 SCN8A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1430517061 PFKM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type VII
RS1430518299 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS1430522580 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1430526811 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS1430529522 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS143053635 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi myopathy
RS1430537083 ABCA12 Health Risk Pathogenic —
RS143053863 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS143054357 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 2, von Willebrand disease type 1
RS143054385 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1430547081 NUP107 Health Risk Pathogenic —
RS143055296 WFS1 Health Risk Conflicting classifications of pathogenicity Cataract 41, Autosomal dominant nonsyndromic hearing loss 6
RS1430557607 SLC29A3 Health Risk Pathogenic/Likely pathogenic H syndrome, H syndrome
RS143056106 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1430565110 HPS5 Health Risk Pathogenic —
RS1430568143 COL4A3 Health Risk Likely pathogenic Alport syndrome 3b, autosomal recessive
RS143057250 HESX1 Health Risk Conflicting classifications of pathogenicity Septo-optic dysplasia sequence, Pituitary hormone deficiency
RS1430578614 SLC4A2 Health Risk Likely pathogenic Distal renal tubular acidosis, Distal renal tubular acidosis
RS143058194 GAD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS143058369 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143058455 MTRR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS143058777 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS143058902 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143059463 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS143059995 PSEN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1V, Alzheimer disease 4
RS1430601173 POLR3A Health Risk Pathogenic POLR-related leukodystrophy, POLR-related leukodystrophy
RS143060121 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS143060223 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, SH3PXD2B-related disorder
RS143060722 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS143060853 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143061031 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Inborn genetic diseases
RS1430615320 PRSS56 Health Risk Pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS143062348 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS143062585 CSTB Health Risk Conflicting classifications of pathogenicity Unverricht-Lundborg syndrome, Unverricht-Lundborg syndrome
RS143063063 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1430630684 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS1430634618 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS143063509 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143063879 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS143064269 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS143064649 WFS1 Health Risk Pathogenic WFS1-Related Spectrum Disorders, Diabetes mellitus
RS143064860 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCLO-related disorder
RS143064939 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
RS1430652756 PIEZO1 Health Risk Likely pathogenic PIEZO1-related disorder, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS1430654625 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 4A
RS143065769 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS143065803 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Inborn genetic diseases
RS1430666956 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1430667498 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1430681871 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1430683955 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS143068551 TBX5 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Cardiovascular phenotype
RS1430687188 CUL7 Health Risk Pathogenic —
RS143068910 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS143068960 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, SLC3A1-related disorder
RS1430695346 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS143069676 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts, Megalencephalic leukoencephalopathy with subcortical cysts
RS143070182 ABCB7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143070839 FBXW4 Health Risk Conflicting classifications of pathogenicity Split hand-foot malformation 3, FBXW4-related disorder
RS1430712125 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS143072070 ILDR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ILDR1-related disorder
RS143073792 TACR3 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 11 with or without anosmia, TACR3-related disorder
RS143073976 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS143074017 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS143074036 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1430741326 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS143075252 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Acute myeloid leukemia
RS1430752700 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS143075344 SLC24A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143075418 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS1430756602 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS143075786 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS1430759473 DUOX2 Health Risk Pathogenic —
RS143076166 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS143076225 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS143076262 RBP3 Health Risk Conflicting classifications of pathogenicity —
RS143077670 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS143078432 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS1430789415 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1430793861 LIFR Health Risk Pathogenic Stuve-Wiedemann syndrome, Stuve-Wiedemann syndrome
RS1430796646 PURA Health Risk Conflicting classifications of pathogenicity PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
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