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
RS763587293 KDM6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome 2
RS763588282 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763588317 ANKS6 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 16, Nephronophthisis 16
RS763589221 HNRNPUL2 Health Risk Likely pathogenic HNRNPUL2-related disorder, HNRNPUL2-related disorder
RS763590899 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS763591247 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS763591386 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS763591743 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS763591781 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS763593155 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS763593669 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS763594644 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS763595608 CDH23;CDH23-AS1 Health Risk Likely pathogenic —
RS763595926 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS763596301 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS763596413 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS763596840 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS763596987 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS763598472 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS763598499 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS763599850 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS763599970 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome
RS763600083 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763601481 SCNN1G Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS763601638 LRP5 Health Risk Conflicting classifications of pathogenicity LRP5-related disorder, 6 conditions
RS763603215 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS763604286 SLC39A5 Health Risk Pathogenic —
RS763604611 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS763604691 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS763605078 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS763605512 NCKAP1L Health Risk Conflicting classifications of pathogenicity —
RS763606858 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763607287 FLNB Health Risk Conflicting classifications of pathogenicity —
RS763608368 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763608502 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS763608512 KRT5 Health Risk Pathogenic EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED INTERMEDIATE
RS763608530 EXT1 Health Risk Pathogenic Inborn genetic diseases, Multiple congenital exostosis
RS763608839 MNX1 Health Risk Conflicting classifications of pathogenicity Currarino triad, Currarino triad
RS763608948 HIVEP2 Health Risk Conflicting classifications of pathogenicity —
RS763609145 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS763611527 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS763612449 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS763613910 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS763613912 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS763614356 ABCA2 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with poor growth and with or without seizures or ataxia, Intellectual developmental disorder with poor growth and with or without seizures or ataxia
RS763614519 COL4A5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763614919 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS763615183 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS763615602 DGUOK Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
RS763615950 SLC38A8 Health Risk Pathogenic/Likely pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS763616548 LARS2 Health Risk Pathogenic/Likely pathogenic Perrault syndrome 4, Perrault syndrome 4
RS763617076 ZP1 Health Risk Pathogenic Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
RS763617146 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS763619811 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Fetal akinesia deformation sequence 3
RS763620385 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS763620441 SLC2A2 Health Risk Pathogenic/Likely pathogenic Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS763621169 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS76362149 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, SLC2A2-related disorder
RS763622631 FAM20C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lethal osteosclerotic bone dysplasia
RS763623409 CFAP410 Health Risk Pathogenic Axial spondylometaphyseal dysplasia, Retinal dystrophy with or without macular staphyloma
RS763624515 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763624831 DNM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate B
RS763625309 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS763625583 SLC27A4 Health Risk Pathogenic —
RS763625913 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS763626059 TBC1D24 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS763626643 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases
RS763626782 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS763627695 KCNQ4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763629092 RSPRY1 Health Risk Pathogenic/Likely pathogenic Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome, Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
RS763629262 LRIT3 Health Risk Conflicting classifications of pathogenicity —
RS763629416 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS763630775 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS763631876 TECRL Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS763632781 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS763632823 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autism spectrum disorder
RS763633152 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal dominant form
RS763637617 ATP2A2 Health Risk Conflicting classifications of pathogenicity Acrokeratosis verruciformis of Hopf, Acrokeratosis verruciformis of Hopf
RS763638795 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763639137 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, Xeroderma pigmentosum
RS763639161 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS763639231 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, 8 conditions
RS763639520 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS763639530 ADGRV1 Health Risk Pathogenic —
RS763639737 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS763639767 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Joubert syndrome 21
RS763640657 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS763640926 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS763641118 B3GALNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS763642189 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS763643471 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
RS763645041 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS763645251 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS763645511 EPHB4 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 7, Cardiovascular phenotype
RS763646234 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Inborn genetic diseases
RS763647876 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS763647934 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS763648121 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS763648933 FLNB Health Risk Conflicting classifications of pathogenicity —
RS763649250 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
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