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
RS779834376 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS779834525 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS779835775 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS779836224 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS779837740 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779838582 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS779838675 PJVK Health Risk Pathogenic —
RS779839358 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome
RS779840832 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS779840896 MAGEL2 Health Risk Conflicting classifications of pathogenicity Schaaf-Yang syndrome, Inborn genetic diseases
RS779841884 LHFPL5 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 67, Hearing loss
RS77984203 VPS13A Health Risk Conflicting classifications of pathogenicity VPS13A-related disorder, VPS13A-related disorder
RS779842988 NF1 Health Risk Pathogenic NF1-related disorder, NF1-related disorder
RS779844113 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS779844193 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS779846117 UBE3A Health Risk Pathogenic —
RS779846182 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS779846520 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS77984885 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS779848906 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS779849582 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS779850024 ERCC2 Health Risk Pathogenic —
RS779850187 VPS13D Health Risk Likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS779850564 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS77985067 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS779850702 ERCC6 Health Risk Pathogenic —
RS779851064 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS779851141 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS779851711 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS779854175 DPP9 Health Risk Pathogenic Hatipoglu immunodeficiency syndrome, Hatipoglu immunodeficiency syndrome
RS779854387 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS779854653 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS779855573 COL4A3 Health Risk Likely pathogenic Alport syndrome 3b, autosomal recessive
RS779855980 PRF1 Health Risk Pathogenic Aplastic anemia, Aplastic anemia
RS779856224 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS779856996 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS779857359 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS779857486 PCDH15 Health Risk Pathogenic —
RS779858018 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS779858591 IQCB1 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 5, Nephronophthisis
RS779858649 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS779858670 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS779861023 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS779861743 ARSB Health Risk Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS779864190 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS779864368 XYLT2 Health Risk Pathogenic/Likely pathogenic Spondylo-ocular syndrome, Spondylo-ocular syndrome
RS779864905 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS779865400 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS779865474 DENND5A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 49
RS779866340 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS779867653 COL6A2 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS779868712 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS779868828 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS779868941 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS779869066 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS779869368 CA2 Health Risk Pathogenic/Likely pathogenic Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS779869631 ATP6V0A4 Health Risk Pathogenic —
RS779869638 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS779869745 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS779869841 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS779870273 TAF1 Health Risk Conflicting classifications of pathogenicity —
RS779870576 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS779870877 CEP135 Health Risk Pathogenic —
RS779871744 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS779871947 CDT1 Health Risk Pathogenic Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
RS779872068 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS779872478 GRIN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with or without hyperkinetic movements and seizures
RS779872953 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS779873011 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS779873020 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS779874042 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779874163 OTOGL Health Risk Conflicting classifications of pathogenicity —
RS779875096 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS779875751 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, Epidermolysis bullosa dystrophica
RS779876883 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS779877080 NFATC1 Health Risk Conflicting classifications of pathogenicity —
RS779877297 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS779877337 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS779877426 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS779877855 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS779878000 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS779878105 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS779878192 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS779878975 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS779879227 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS779881258 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS779881455 ACO2 Health Risk Conflicting classifications of pathogenicity —
RS779882722 NALCN Health Risk Likely pathogenic —
RS77988381 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS779884344 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS779885444 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS779885552 SMC3 Health Risk Pathogenic —
RS779886453 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Stargardt disease
RS779887176 KCNV2 Health Risk Pathogenic —
RS779887555 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS779888126 CDH3 Health Risk Pathogenic Congenital hypotrichosis with juvenile macular dystrophy, Retinal dystrophy
RS779888644 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS779888892 ASAH1 Health Risk Conflicting classifications of pathogenicity Spinal muscular atrophy-progressive myoclonic epilepsy syndrome, Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
RS779890709 SCN4A Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 2
RS779892361 CNTN2 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial adult myoclonic
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