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
RS199583315 PDHX Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E3-binding protein deficiency, PDHX-related disorder
RS199583341 TYROBP Health Risk Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
RS199583516 UNC45B Health Risk Likely pathogenic Myofibrillar myopathy 11, Myofibrillar myopathy 11
RS199583537 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Intellectual disability
RS199583685 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS199583774 PKP2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS199583793 ANKH Health Risk Conflicting classifications of pathogenicity —
RS199583971 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS199584108 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS199584268 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS199584443 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS199584687 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, Inborn genetic diseases
RS199584830 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS199585130 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS199585281 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS199585352 MYPN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1KK
RS199585402 FHL2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, FHL2-related disorder
RS199585500 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS199585821 ATN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199586038 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS199586231 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS199586863 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS199587016 PSEN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1V, Alzheimer disease 4
RS199587570 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS199587668 APP Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Alzheimer disease
RS199587784 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS199587895 HMGCL Health Risk Conflicting classifications of pathogenicity Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS199587998 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Retinitis pigmentosa
RS199588107 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS199588110 GP6 Health Risk Conflicting classifications of pathogenicity Abnormal bleeding, Thrombocytopenia
RS199588131 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS199588225 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Inborn genetic diseases
RS199588257 XYLT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS199588390 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS199588440 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS199588930 CSMD1 Health Risk Conflicting classifications of pathogenicity —
RS199588962 TNRC18 Health Risk Conflicting classifications of pathogenicity —
RS199588981 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS199589412 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS199589510 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS199589693 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS199589914 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS199589947 LARS2 Health Risk Pathogenic/Likely pathogenic Perrault syndrome 4, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
RS199590149 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS199590367 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS199590449 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Adult hypophosphatasia
RS199590524 TTN Health Risk Conflicting classifications of pathogenicity —
RS199590641 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS199590656 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, GM3 synthase deficiency
RS199590811 FLNB Health Risk Conflicting classifications of pathogenicity Atelosteogenesis type III, Atelosteogenesis type I
RS199591689 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 45
RS199591851 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS199591964 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS199592185 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group P, Fanconi anemia
RS199592188 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Inborn genetic diseases
RS199592341 NDUFA9 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 26
RS199592458 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS199592697 WNT7A Health Risk Conflicting classifications of pathogenicity Fuhrmann syndrome, Fuhrmann syndrome
RS199592702 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS199592861 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS199593058 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS199593367 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199594182 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS199594233 MAK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199594245 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CNGB1-related disorder
RS199594270 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS199594373 CEP135 Health Risk Conflicting classifications of pathogenicity —
RS199594449 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199594582 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS199594647 STEAP3 Health Risk Conflicting classifications of pathogenicity —
RS199594809 MSH6 Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Hereditary cancer-predisposing syndrome
RS199595073 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199595156 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS199595574 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS199595728 SETD5 Health Risk Conflicting classifications of pathogenicity SETD5-related disorder, SETD5-related disorder
RS199595780 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS199596170 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS199596322 SLC25A12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199597099 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199597323 UROD Health Risk Conflicting classifications of pathogenicity Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS199597619 PPP2R5D Health Risk Conflicting classifications of pathogenicity Hogue-Janssens syndrome 1, Hogue-Janssens syndrome 1
RS199597649 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS199597732 RTTN Health Risk Conflicting classifications of pathogenicity —
RS199597858 MBD4 Health Risk Conflicting classifications of pathogenicity Malignant lymphoma, large B-cell
RS199597864 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS199597878 SCN3A Health Risk Conflicting classifications of pathogenicity SCN3A-related disorder, SCN3A-related disorder
RS199597935 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS199598066 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS199598260 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS199598712 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS199598836 NCAPG2 Health Risk Conflicting classifications of pathogenicity —
RS199599147 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS199599175 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS199599393 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS199599404 INSR Health Risk Conflicting classifications of pathogenicity —
RS199599591 TG Health Risk Pathogenic/Likely pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS199599636 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS199599837 ALPK3 Health Risk Pathogenic —
RS199599888 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199599995 GHSR Health Risk Conflicting classifications of pathogenicity Short stature due to growth hormone secretagogue receptor deficiency, Inborn genetic diseases
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