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
RS1465829182 DNMT3A Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1465836003 TPM2 Health Risk Pathogenic Arthrogryposis, distal
RS146583835 SMAD9 Health Risk Pathogenic/Likely pathogenic Pulmonary arterial hypertension associated with congenital heart disease, Pulmonary arterial hypertension associated with congenital heart disease
RS146583950 FLNB Health Risk Conflicting classifications of pathogenicity —
RS146584228 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS1465842300 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter syndrome, Inborn genetic diseases
RS146584570 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS146584765 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS146584956 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Hereditary spastic paraplegia
RS146586939 CHSY1 Health Risk Conflicting classifications of pathogenicity Temtamy preaxial brachydactyly syndrome, Temtamy preaxial brachydactyly syndrome
RS146586991 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS146587089 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, CACNA2D2-related disorder
RS1465872803 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146587686 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS146588335 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS146588336 INSR Health Risk Conflicting classifications of pathogenicity Insulin-resistant diabetes mellitus AND acanthosis nigricans, Rabson-Mendenhall syndrome
RS146588608 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS146588811 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS146588926 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
RS146589465 ATG7 Health Risk Conflicting classifications of pathogenicity —
RS1465903121 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146591309 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS146591738 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146591828 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1465921700 FOXE3 Health Risk Pathogenic Congenital primary aphakia, Anterior segment dysgenesis
RS146592584 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS146592828 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, FYCO1-related disorder
RS146593015 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1465930949 VMA21 Health Risk Conflicting classifications of pathogenicity X-linked myopathy with excessive autophagy, Inborn genetic diseases
RS146593865 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS146594275 WDR87 Health Risk Conflicting classifications of pathogenicity —
RS146594802 CDH15 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 3
RS146595129 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS146595460 CES1 Health Risk Conflicting classifications of pathogenicity —
RS146596574 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS146596670 CEP55 Health Risk Pathogenic/Likely pathogenic Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
RS1465966933 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS146597866 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS146598030 ARID1A Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 14
RS1465980897 CA4 Health Risk Likely pathogenic —
RS1465984343 TOE1 Health Risk Pathogenic —
RS1465993279 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS146599698 ATP5MK Health Risk Pathogenic Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6
RS146599917 PLEKHG2 Health Risk Conflicting classifications of pathogenicity —
RS146600671 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS146600721 TSPEAR Health Risk Likely pathogenic —
RS1466009259 FLAD1 Health Risk Pathogenic —
RS146601260 STAMBP Health Risk Conflicting classifications of pathogenicity Microcephaly-capillary malformation syndrome, Microcephaly-capillary malformation syndrome
RS146601335 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS146601373 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS146601680 TWNK Health Risk Conflicting classifications of pathogenicity —
RS146603801 ALG8 Health Risk Conflicting classifications of pathogenicity ALG8 congenital disorder of glycosylation, ALG8-related disorder
RS146603886 MCEE Health Risk Likely pathogenic Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency, Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
RS1466044046 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS146604807 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS146604877 SALL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Duane-radial ray syndrome
RS1466053170 UNC80 Health Risk Likely pathogenic —
RS1466053365 CRPPA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2U, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS146605798 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS146606352 GNAT2 Health Risk Likely pathogenic Achromatopsia 4, Achromatopsia 4
RS1466067357 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS146606931 NLRP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Cryopyrin associated periodic syndrome
RS1466073004 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS146608591 SLC6A19 Health Risk Likely pathogenic Neutral 1 amino acid transport defect, Neutral 1 amino acid transport defect
RS146608896 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS146609069 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS1466102804 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS146610448 TECRL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 3
RS146610900 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS146611034 SAMD9L Health Risk Conflicting classifications of pathogenicity Monosomy 7 myelodysplasia and leukemia syndrome 1, SAMD9L-related disorder
RS1466111134 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS146611494 ZNF804A Health Risk Conflicting classifications of pathogenicity ZNF804A-related disorder, ZNF804A-related disorder
RS1466115591 OPA3 Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 3, 3-Methylglutaconic aciduria type 3
RS146611729 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Inborn genetic diseases
RS146612279 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1466129143 SCN2A Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1466129760 CSDE1 Health Risk Pathogenic —
RS1466130502 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS146613648 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS146614144 PDGFRB Health Risk Conflicting classifications of pathogenicity Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Infantile myofibromatosis
RS1466149546 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS146614981 FXYD2 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 2, FXYD2-related disorder
RS146615166 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1466153326 LTBP4 Health Risk Likely pathogenic —
RS146615936 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS146616224 COQ8B Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 9
RS146616621 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS1466167635 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS146617004 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS146617205 THRB Health Risk Conflicting classifications of pathogenicity —
RS146617227 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS1466172660 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS146617683 DSP Health Risk Conflicting classifications of pathogenicity Primary familial dilated cardiomyopathy, Palmoplantar blistering
RS1466182533 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1466185247 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS146618526 IARS2 Health Risk Pathogenic/Likely pathogenic Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome, Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
RS1466186480 ITGB2 Health Risk Pathogenic Inborn genetic diseases, Leukocyte adhesion deficiency 1
RS146618661 OTOF Health Risk Conflicting classifications of pathogenicity —
RS146618994 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS146619272 TEX15 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 25, Spermatogenic failure 25
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