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
RS1445817375 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1445819062 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS144582229 TECTA Health Risk Conflicting classifications of pathogenicity TECTA-related disorder, TECTA-related disorder
RS1445826036 EARS2 Health Risk Pathogenic Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS1445829303 CACNA1E Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 69
RS144583275 PC Health Risk Pathogenic/Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1445844416 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1445845736 MAK Health Risk Pathogenic —
RS144585693 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS144586148 C8B Health Risk Conflicting classifications of pathogenicity Type II complement component 8 deficiency, Inborn genetic diseases
RS144586270 TSPEAR Health Risk Conflicting classifications of pathogenicity TSPEAR-related disorder, TSPEAR-related disorder
RS144586521 ANOS1 Health Risk Pathogenic —
RS144587211 IMPDH1 Health Risk Conflicting classifications of pathogenicity —
RS144587241 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
RS144587343 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS144588417 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS144588452 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS1445885320 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1445886162 LOXHD1 Health Risk Pathogenic —
RS1445887025 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS1445890457 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1445892049 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS1445893088 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS144589541 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Complement component 3 deficiency
RS144590408 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS144590448 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, ITGB2-related disorder
RS144590560 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS144590904 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, MTTP-related disorder
RS1445909096 RLBP1 Health Risk Likely pathogenic Newfoundland cone-rod dystrophy, Bothnia retinal dystrophy
RS144590958 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS1445910672 TBX1 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, DiGeorge syndrome
RS144591360 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS144592409 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
RS144592743 DOK7 Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 10
RS144592806 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS144593192 IRF4 Health Risk Conflicting classifications of pathogenicity —
RS144593342 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS1445940471 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS144594692 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144594695 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, Cardiovascular phenotype
RS144594804 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Spastic paraplegia
RS144594832 LRP2 Health Risk Conflicting classifications of pathogenicity LRP2-related disorder, Donnai-Barrow syndrome
RS144594875 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS144595013 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS144595035 F11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1445951068 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1445951268 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1445957469 TMEM237 Health Risk Likely pathogenic Joubert syndrome 14, Joubert syndrome 14
RS144595998 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS144596205 ENTREP1 Health Risk Conflicting classifications of pathogenicity —
RS144596211 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS144596374 TLR3 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS1445965781 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS144596955 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1445970498 PDX1 Health Risk Conflicting classifications of pathogenicity Familial Monogenic Diabetes (Maturity Onset Diabetes Of The Young 4)/Neonatal Diabetes Mellitus, Maturity-onset diabetes of the young
RS1445972147 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS144597224 C2CD3 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 14, Gastric cancer
RS144597480 TBX20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1445978091 CC2D2A Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS144597856 POLR1D Health Risk Conflicting classifications of pathogenicity POLR1D-related disorder, POLR1D-related disorder
RS144597913 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS144598063 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
RS1445986287 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma
RS144599077 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS1445993948 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS144599409 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS144599870 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS144600070 DNAJC21 Health Risk Conflicting classifications of pathogenicity Bone marrow failure syndrome 3, DNAJC21-related disorder
RS1446002589 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS144600401 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, MTTP-related disorder
RS144601090 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1446025324 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS144602736 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS144603433 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS144603589 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS144603824 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS144605831 SAMD9L Health Risk Conflicting classifications of pathogenicity SAMD9L-related disorder, SAMD9L-related disorder
RS144606661 NHLRC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NHLRC2-related disorder
RS1446078714 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS144607919 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1446081294 FLG Health Risk Likely pathogenic Dermatitis, atopic
RS144608959 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cockayne syndrome type 2
RS144609506 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1446095060 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS144609655 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS144610900 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Inborn genetic diseases
RS144610914 PIBF1 Health Risk Likely pathogenic Cephalocele, Joubert syndrome 33
RS1446110883 LTBP2 Health Risk Pathogenic/Likely pathogenic Glaucoma of childhood, Glaucoma of childhood
RS1446115570 UNC13D Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS1446116085 ENG Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS144612641 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS144613015 PRKD1 Health Risk Conflicting classifications of pathogenicity —
RS1446132233 LEPR Health Risk Likely pathogenic —
RS144613667 TMEM216 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 2, Meckel syndrome
RS144614070 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS144614075 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 3
RS144614838 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS144615318 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS144615326 NBAS Health Risk Conflicting classifications of pathogenicity —
RS1446153272 IMPG1 Health Risk Pathogenic —
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