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
RS139475570 SYP Health Risk Conflicting classifications of pathogenicity History of neurodevelopmental disorder, Charcot-Marie-Tooth disease
RS139476915 VRK1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Congenital pontocerebellar hypoplasia type 1
RS139478274 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1394788679 FOXI3 Health Risk Likely pathogenic —
RS139478887 HABP2 Health Risk Conflicting classifications of pathogenicity Factor VII Marburg I Variant Thrombophilia, Factor VII Marburg I Variant Thrombophilia
RS139479466 AKT2 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
RS139479590 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS139480015 LAMB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139480042 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139480047 LRP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LRP6-related disorder
RS139480065 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS139480342 MYH3 Health Risk Conflicting classifications of pathogenicity Rhabdomyolysis, Distal arthrogryposis type 2B1
RS1394805238 PLXNA1 Health Risk Likely pathogenic —
RS139481521 EVC Health Risk Conflicting classifications of pathogenicity Curry-Hall syndrome, Ellis-van Creveld syndrome
RS139481866 LTBP2 Health Risk Conflicting classifications of pathogenicity LTBP2-related disorder, Inborn genetic diseases
RS139482113 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS139482132 ANLN Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, Chronic kidney disease
RS1394829489 CNGB3 Health Risk Pathogenic —
RS1394834891 LYST Health Risk Pathogenic/Likely pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS1394836623 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS139483814 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139483880 KIFBP Health Risk Conflicting classifications of pathogenicity —
RS1394840448 TRAF3IP2 Health Risk Likely pathogenic Candidiasis, familial
RS139484231 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder
RS139484283 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1394845092 NR2E3 Health Risk Pathogenic —
RS139484963 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139486133 TTN Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Tip-toe gait
RS1394861740 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1394866894 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1394867404 GNPTG Health Risk Pathogenic —
RS139486832 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS139486943 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS139487685 LAMB1 Health Risk Conflicting classifications of pathogenicity Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS139487723 RAD54L Health Risk Conflicting classifications of pathogenicity Non-Hodgkin lymphoma, Non-Hodgkin lymphoma
RS139488626 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS139488862 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS139488968 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS139489232 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS1394896229 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS139490666 MTTP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139491074 ZBTB24 Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Inborn genetic diseases
RS139491301 C7 Health Risk Pathogenic/Likely pathogenic Complement component 7 deficiency, C7-related disorder
RS139491575 PHF21A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139491817 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS139491925 IGLL1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 2, autosomal recessive
RS139492098 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS139492230 PAX5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139492241 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS139492270 TCF3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1394932968 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1394933873 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS139493548 KRT85 Health Risk Conflicting classifications of pathogenicity KRT85-related disorder, KRT85-related disorder
RS139493862 C1S Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139494055 GPD1L Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS1394942244 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS139494583 KAT6A Health Risk Pathogenic Craniosynostosis syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1394948601 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS1394951912 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS139495263 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS139495292 CLASP1;CLASP1-AS1;RNU4ATAC Health Risk Pathogenic/Likely pathogenic Osteodysplastic primordial dwarfism, type 1
RS139495864 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS1394961527 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Lymphangiomyomatosis
RS139496244 ALAS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139496326 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS139496777 JUP Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Naxos disease
RS139496915 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Inborn genetic diseases
RS139497493 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS139497497 MASP1 Health Risk Conflicting classifications of pathogenicity 3MC syndrome 1, MASP1-related disorder
RS139497891 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Acrodermatitis continua suppurativa of Hallopeau
RS139498556 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS139498590 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS139498867 C8B Health Risk Likely benign; association —
RS1394994913 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS139499540 ATP1A2 Health Risk Conflicting classifications of pathogenicity Familial hemiplegic migraine, Alternating hemiplegia of childhood 1
RS1394999756 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS139500352 DNAH3 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Spermatogenic failure 18
RS1395017892 GUCY2D Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS139502000 LAMA5 Health Risk Conflicting classifications of pathogenicity Polymicrogyria, Polymicrogyria
RS139502866 SRP72 Health Risk Conflicting classifications of pathogenicity Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia
RS139503327 COCH Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 9, Autosomal dominant nonsyndromic hearing loss 9
RS139503476 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1395036642 CASQ2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1395036789 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS1395037247 CSF2RA Health Risk Pathogenic Surfactant metabolism dysfunction, pulmonary
RS139503903 AWAT1 Health Risk Conflicting classifications of pathogenicity —
RS139504152 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS139504522 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS139504737 JAK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer, Acquired polycythemia vera
RS139504940 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS139505007 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS139506719 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy
RS1395068713 MME Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS139506970 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS139507058 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS139507581 LEMD3 Health Risk Conflicting classifications of pathogenicity Dermatofibrosis lenticularis disseminata, Inborn genetic diseases
RS139509075 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS139509847 TECTA Health Risk Conflicting classifications of pathogenicity —
RS139509870 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS139509927 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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