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
RS762233086 RPS24 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia, Diamond-Blackfan anemia 3
RS762234006 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS762234555 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS762234799 LAMB3 Health Risk Pathogenic —
RS762235173 KRT3 Health Risk Conflicting classifications of pathogenicity —
RS762235688 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS762236241 ITGB4 Health Risk Likely pathogenic Epidermolysis bullosa simplex 1C, localized
RS762237699 CFAP410 Health Risk Pathogenic Axial spondylometaphyseal dysplasia, Axial spondylometaphyseal dysplasia
RS762237782 DMXL2 Health Risk Pathogenic/Likely pathogenic —
RS762238437 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group G, Fanconi anemia
RS762238621 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Arrhythmogenic right ventricular dysplasia 8
RS762239398 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS76224028 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence 4
RS762240306 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS762241502 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS762242728 TGM6 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS762242838 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS762243203 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, ABCC2-related disorder
RS762245146 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762245736 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS762245872 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS762247126 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS762247401 VPS13A Health Risk Pathogenic —
RS762248387 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS762248733 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 36, Autosomal recessive nonsyndromic hearing loss 7
RS76224909 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS762250680 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS762251339 KCNT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS762251387 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
RS762253691 RPS6KA3 Health Risk Conflicting classifications of pathogenicity Coffin-Lowry syndrome, Intellectual disability
RS762253815 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS762254417 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS762254542 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS762254729 HIVEP2 Health Risk Conflicting classifications of pathogenicity —
RS762255098 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS762256045 SQOR Health Risk Pathogenic Sulfide quinone oxidoreductase deficiency, Sulfide quinone oxidoreductase deficiency
RS762256746 PTPN23 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS762257184 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS762258197 NBEAL2 Health Risk Likely pathogenic Gray platelet syndrome, Gray platelet syndrome
RS762258242 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS762258343 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
RS762259521 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS762259872 B3GALNT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS762260678 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS762261543 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762261992 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS762262807 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS762262964 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS762262985 FBXO38 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS762263694 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS762265902 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS762266071 ERMARD Health Risk Likely pathogenic Periventricular nodular heterotopia 6, Periventricular nodular heterotopia 6
RS762267064 RSPH4A Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762267386 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS762267460 HPD Health Risk Pathogenic/Likely pathogenic Hawkinsinuria, Tyrosinemia type III
RS762267535 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS762268076 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS762271078 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS762271422 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Autosomal dominant spastic paraplegia type 9
RS762272849 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS762273987 ELANE Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Cyclical neutropenia
RS762273997 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS762274027 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS762274397 ADAMTSL4 Health Risk Pathogenic —
RS762276611 NGLY1 Health Risk Likely pathogenic Neurodevelopmental abnormality, Congenital disorder of deglycosylation 1
RS762276925 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Retinitis pigmentosa
RS762277251 CYBA Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS762277548 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS762277732 POGLUT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2R1, Autosomal recessive limb-girdle muscular dystrophy type 2R1
RS762278054 C2CD3 Health Risk Conflicting classifications of pathogenicity —
RS762278198 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS762278203 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS762278237 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS762278346 PKD1 Health Risk Pathogenic —
RS762279471 ABCG8 Health Risk Likely pathogenic Sitosterolemia 1, Sitosterolemia 1
RS762279651 FKBP14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type
RS762279806 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS762280759 PPOX Health Risk Pathogenic —
RS762280958 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS762281715 HSPG2 Health Risk Pathogenic Lethal Kniest-like syndrome, Lethal Kniest-like syndrome
RS762281932 FMN2 Health Risk Likely pathogenic —
RS762282433 TPM1 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS762283064 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762283381 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS762284875 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS762285081 GPSM2 Health Risk Pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS762286447 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS762287443 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762287966 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS762288077 NSUN2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal recessive 5
RS762288499 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS762288547 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS762288656 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS762288961 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS762289015 KCNQ3 Health Risk Pathogenic Intellectual disability, Seizure
RS762289712 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS762290343 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS762290992 ALDH5A1 Health Risk Pathogenic/Likely pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS762291063 PSTPIP1 Health Risk Conflicting classifications of pathogenicity Pyogenic arthritis-pyoderma gangrenosum-acne syndrome, Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
RS762291612 ABCC2 Health Risk Pathogenic —
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