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
RS375876694 BCS1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, Microcephaly
RS375877098 NAA10 Health Risk Conflicting classifications of pathogenicity NAA10-related disorder, NAA10-related disorder
RS375877462 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS375877997 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS375878222 NHS Health Risk Conflicting classifications of pathogenicity Cataract 40, Nance-Horan syndrome
RS375878431 CACNA1G Health Risk Conflicting classifications of pathogenicity —
RS375878630 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS375878760 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, SLC24A1-related disorder
RS375879489 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS375882181 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS375882259 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS375882485 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS375882550 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS375883030 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS375883981 SDHA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS375884809 COL6A2 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Myosclerosis
RS375885718 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia with growth hormone deficiency, X-linked agammaglobulinemia with growth hormone deficiency
RS375886371 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS375886479 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS375886742 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS375887656 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, SLC12A6-related disorder
RS375887732 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS375887892 PRDM12 Health Risk Conflicting classifications of pathogenicity Congenital insensitivity to pain-hypohidrosis syndrome, Inborn genetic diseases
RS375889300 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS375889530 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS375889604 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial ovarian cancer
RS375890787 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, Inborn genetic diseases
RS375891208 EDAR Health Risk Conflicting classifications of pathogenicity Hypohidrotic ectodermal dysplasia, Ectodermal dysplasia 10A
RS375891215 DSP Health Risk Conflicting classifications of pathogenicity Left ventricular hypertrophy, Sudden death
RS375891968 NIN Health Risk Conflicting classifications of pathogenicity —
RS375892072 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS375892626 DNHD1 Health Risk Conflicting classifications of pathogenicity —
RS375894411 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS375894671 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS375895183 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375895456 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS375895797 CFB Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with B factor anomaly, Macular degeneration
RS375896308 SCN1A Health Risk Conflicting classifications of pathogenicity SUDDEN INFANT DEATH SYNDROME, Early-infantile DEE
RS375896520 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS375897089 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 4
RS375897519 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS375897994 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS375898051 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, GPR179-related disorder
RS375898103 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS375898604 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Inborn genetic diseases
RS375898877 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375898960 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS375899729 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Movement disorder
RS375900265 CDH23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375900985 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS375901638 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS375902120 GSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Finnish type amyloidosis
RS375902720 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS375903820 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS375904080 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS375904355 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS375905260 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS375905519 CFHR2 Health Risk Conflicting classifications of pathogenicity —
RS375905956 NDUFA2 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Inborn genetic diseases
RS375906347 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS375907280 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS375907742 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS375907790 PEX19 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS375908206 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS375908513 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375909006 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS375909217 INPP5E Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Joubert syndrome 1
RS375909549 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375909800 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS375910154 XPC Health Risk Likely pathogenic —
RS375910993 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS375911119 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases
RS375911555 ASPM Health Risk Conflicting classifications of pathogenicity —
RS375912206 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375912268 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS375913094 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, SERPINH1-related disorder
RS375913178 TUBGCP6 Health Risk Conflicting classifications of pathogenicity —
RS375914028 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS375914533 IMPDH1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 11, Retinitis pigmentosa
RS375914552 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS375915127 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS375915416 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS375915752 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS375915880 RNF168 Health Risk Pathogenic/Likely pathogenic RIDDLE syndrome, RIDDLE syndrome
RS375916159 ESRRB Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS375916445 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS375917565 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS375918283 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS375918532 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS375918996 GUCY2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375919492 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS375920156 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS375921211 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS375921325 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ADGRV1-related disorder
RS375921453 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS375921454 IL2RG Health Risk Conflicting classifications of pathogenicity X-linked severe combined immunodeficiency, Inborn genetic diseases
RS375922773 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS375923779 CPOX Health Risk Conflicting classifications of pathogenicity CPOX-related disorder, CPOX-related disorder
RS375924639 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS375925656 MFN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
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