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
RS761551726 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS761552446 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS761553925 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS761554022 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS761554206 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS761554381 RGR Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 44, Retinitis pigmentosa 44
RS761554853 CNGA3 Health Risk Likely pathogenic Retinal dystrophy, Achromatopsia 2
RS761555167 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS761557390 ABCA12 Health Risk Pathogenic —
RS761558985 NAGS Health Risk Pathogenic/Likely pathogenic Hyperammonemia, type III
RS761559887 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS761560224 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS761562076 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Aortic valve disease 1
RS761562615 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS761563364 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS761564262 XRCC1 Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive 26
RS761564635 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS761565265 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases
RS761565516 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
RS761567176 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS761568836 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS761569930 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS761572391 ASPM Health Risk Conflicting classifications of pathogenicity —
RS761572907 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS761573352 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS761574063 PROS1 Health Risk Likely pathogenic Protein S deficiency disease, Protein S deficiency disease
RS761575154 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS761575210 CYP2U1 Health Risk Likely pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS761575295 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS761575760 PHF21A Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
RS761575973 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS761576251 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS761576315 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS761577170 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS761577958 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS761578558 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS761579423 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS761579543 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS761580028 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS761580972 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS761581335 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761581720 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS761581941 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS761582251 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS761583890 JAK3 Health Risk Pathogenic/Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease
RS761584017 RAPSN Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS761584493 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS761584506 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS761585108 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS761585117 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Lung cancer
RS761585621 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS761588725 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS761589107 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS761589376 RAD51D Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS761591000 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS761591158 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS761592042 TEX14 Health Risk Pathogenic Spermatogenic failure 23, Spermatogenic failure 23
RS761592349 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS761592620 SH3TC2 Health Risk Conflicting classifications of pathogenicity —
RS761592860 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS761594079 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS761594217 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761595544 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS761596254 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS761596436 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS761596789 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS761597986 RTTN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761599964 ACTA2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS761600175 TNXB Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS761600715 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS761601545 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS761602495 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS761602649 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS761602674 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS761603858 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS761604406 DOLK Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS761605711 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS761605754 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS761606317 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS761607612 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS761608162 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS761609284 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Malignant tumor of urinary bladder
RS761612652 INPP5K Health Risk Pathogenic Congenital muscular dystrophy with cataracts and intellectual disability, Congenital muscular dystrophy with cataracts and intellectual disability
RS761612832 PAX8 Health Risk Pathogenic/Likely pathogenic Hypothyroidism, congenital
RS761613652 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS761613739 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS761614356 SYNJ1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 53
RS761614407 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761615413 SDHD Health Risk Pathogenic Paragangliomas with sensorineural hearing loss, Carney-Stratakis syndrome
RS761616685 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS761616770 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS761616995 KPTN Health Risk Conflicting classifications of pathogenicity Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
RS761617432 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS761617724 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia
RS761618860 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS761619279 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS761619655 C2 Health Risk Pathogenic —
RS761619791 PDE6B Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS761619802 QDPR Health Risk Pathogenic Dihydropteridine reductase deficiency, Colorectal cancer
RS761620701 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
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