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
RS773780828 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS773781058 NPHP1 Health Risk Likely pathogenic Nephronophthisis, Joubert syndrome with renal defect
RS773781713 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS773781896 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS773783407 DYSF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS773783502 RNF212B Health Risk Likely pathogenic Female infertility, Female infertility
RS773783775 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS773783827 CIZ1 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonic disorder
RS773784306 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS773784532 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS773785908 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Ectopia lentis 1
RS773785934 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS773786369 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS773786550 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS773786955 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS773789432 INS Health Risk Conflicting classifications of pathogenicity Transient Neonatal Diabetes, Dominant/Recessive
RS773789551 TOP3A Health Risk Likely pathogenic —
RS773790897 TBCD Health Risk Pathogenic/Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS773791331 COL4A1 Health Risk Conflicting classifications of pathogenicity Proteinuria, Proteinuria
RS773793700 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS773793756 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS773795281 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS773795297 IFIH1 Health Risk Conflicting classifications of pathogenicity Singleton-Merten syndrome 1, Aicardi-Goutieres syndrome 7
RS773796940 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS773797737 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS773797780 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS773799838 DISP1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 7, Holoprosencephaly 7
RS773800556 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS773801337 FITM2 Health Risk Pathogenic Siddiqi syndrome, Siddiqi syndrome
RS773801386 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS773802581 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KMT2D-related disorder
RS773802779 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS773803207 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer
RS773803500 PKLR Health Risk Pathogenic —
RS773804340 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS773806020 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS773806167 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS773806829 HMGCS2 Health Risk Conflicting classifications of pathogenicity 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS773807157 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS773807635 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS773807649 FAM161A Health Risk Pathogenic —
RS773807881 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS773807925 GLIS3 Health Risk Likely pathogenic Inborn genetic diseases, Neonatal diabetes mellitus with congenital hypothyroidism
RS773808155 TREX1 Health Risk Pathogenic/Likely pathogenic Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations, Systemic lupus erythematosus
RS773809011 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS773810711 TET2 Health Risk Pathogenic —
RS773812422 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS773812714 SCYL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS773812911 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS773813809 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS773814169 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS773814837 TP53RK Health Risk Pathogenic Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
RS773814880 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS773817946 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS773818258 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, GABRD-related disorder
RS773818474 NDUFS6 Health Risk Pathogenic —
RS773818669 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS773819434 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS773819736 LARS1 Health Risk Pathogenic —
RS773819922 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS773820329 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS773820426 TGFB2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS773821829 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS773822420 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS773822569 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS773823235 SLC26A1 Health Risk Conflicting classifications of pathogenicity Nephrolithiasis, calcium oxalate
RS773823921 ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS773824115 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GRIN2D-related disorder
RS773824421 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS773824610 NCAPD3 Health Risk Pathogenic Microcephaly 22, primary
RS773825078 CSPP1 Health Risk Pathogenic —
RS773825862 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS773826187 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS773827160 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Inborn genetic diseases
RS773827877 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS773828586 USH2A Health Risk Conflicting classifications of pathogenicity —
RS773829275 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS773830746 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS773831304 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS773831663 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS773831845 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS773832212 NDUFV1 Health Risk Conflicting classifications of pathogenicity —
RS773832238 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS773832380 SOX5 Health Risk Pathogenic/Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS773832819 RTEL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773832988 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS773834428 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS773836291 NPC2 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C2
RS773837266 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS77383735 EPS8 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 102, Inborn genetic diseases
RS773838753 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS773839903 COL1A2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS773840097 ATP6V0A4 Health Risk Pathogenic Renal tubular acidosis, distal
RS773840258 AP4B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS773840992 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773841071 CYP2U1 Health Risk Pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS773841153 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS773841328 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS773841889 CYP11B1 Health Risk Pathogenic —
RS773841943 SLC6A19 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neutral 1 amino acid transport defect
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