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
RS1302178938 FLT4 Health Risk Likely pathogenic —
RS1302190999 HMGCL Health Risk Likely pathogenic Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS1302200961 COL4A5 Health Risk Likely pathogenic —
RS1302206828 EPHB4 Health Risk Likely pathogenic EPHB4-related disorder, EPHB4-related disorder
RS1302209410 CDKN1C Health Risk Conflicting classifications of pathogenicity Beckwith-Wiedemann syndrome, CDKN1C-related disorder
RS1302209849 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1302210262 PCARE Health Risk Pathogenic —
RS1302210667 GM2A Health Risk Likely pathogenic Tay-Sachs disease, variant AB
RS1302216206 MCCC2 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1302236491 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Multiple endocrine neoplasia type 4
RS1302248679 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1302254196 ASXL3 Health Risk Conflicting classifications of pathogenicity ASXL3-related disorder, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1302255267 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1302265167 OTOG Health Risk Pathogenic —
RS1302294029 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1302313826 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1302317350 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1302326945 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS1302332659 GNAI3;GNAT2;MIR197 Health Risk Likely pathogenic Achromatopsia 4, Achromatopsia 4
RS1302336455 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Ovarian cancer
RS1302337975 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1302361762 COL2A1 Health Risk Likely pathogenic —
RS1302362911 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1302369946 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1302373559 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1302387853 PDE6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1302398047 FKBP10 Health Risk Pathogenic —
RS1302409621 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1302414683 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS1302427305 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1
RS1302428933 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1302430730 POMGNT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1302470051 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, GUSB-related disorder
RS1302471394 SMPD4 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS1302487476 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1302506624 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1302509857 DNAAF4 Health Risk Pathogenic Primary ciliary dyskinesia 25, Primary ciliary dyskinesia 25
RS1302543317 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1302547655 SDHA Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 5, Mitochondrial complex II deficiency
RS1302552127 ERCC3 Health Risk Pathogenic/Likely pathogenic Trichothiodystrophy 2, photosensitive
RS1302558061 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS1302587036 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS1302611253 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1302626569 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1302642659 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS1302660801 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1302692296 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1302694358 DDX3X Health Risk Conflicting classifications of pathogenicity —
RS1302701490 FGA Health Risk Likely pathogenic Familial visceral amyloidosis, Ostertag type
RS1302722012 USH2A Health Risk Pathogenic —
RS1302726543 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS1302735956 GORAB Health Risk Pathogenic —
RS1302739538 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss
RS1302747902 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS1302751005 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1302753011 IFT80 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 2, Asphyxiating thoracic dystrophy 2
RS1302764635 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS13027659 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Atypical hemolytic-uremic syndrome
RS1302770627 ABCA7 Health Risk Likely pathogenic ABCA7-related disorder, ABCA7-related disorder
RS1302770820 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS1302782570 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS1302783957 COLQ Health Risk Pathogenic —
RS1302797003 CRBN Health Risk Pathogenic Intellectual disability, autosomal recessive 2
RS1302809734 PROM1 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1302810798 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Paget disease of bone 2
RS1302814429 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 17
RS1302832406 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1302836963 KANK1 Health Risk Conflicting classifications of pathogenicity Cerebral palsy, spastic quadriplegic
RS1302840036 MED17 Health Risk Pathogenic/Likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS1302842400 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1302865780 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 9, Hypertrophic cardiomyopathy 9
RS1302879683 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS1302894198 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1302907379 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1302913513 ARSG Health Risk Likely pathogenic Usher syndrome, type 4
RS1302922191 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS1302923931 LZTR1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1302928728 CYP24A1 Health Risk Likely pathogenic —
RS1302929012 DGAT1 Health Risk Likely pathogenic —
RS1302931500 NLRP12 Health Risk Pathogenic Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS1302949776 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1302961946 PGM1 Health Risk Likely pathogenic —
RS1303000161 TRIM37 Health Risk Pathogenic —
RS1303000329 DLC1 Health Risk risk factor Neural tube defect, Neural tube defect
RS1303017241 EYS Health Risk Pathogenic —
RS1303026707 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1303026901 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1303032996 DMXL2 Health Risk Pathogenic —
RS1303033636 TUBGCP4 Health Risk Pathogenic —
RS1303038263 CFI Health Risk Likely pathogenic/Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1303044966 ABHD12 Health Risk Pathogenic PHARC syndrome, PHARC syndrome
RS1303053833 POU3F3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1303057809 COL4A4 Health Risk Pathogenic —
RS1303065649 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1303074743 PRKCG Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1303076207 AQP2 Health Risk Pathogenic/Likely pathogenic Diabetes insipidus, nephrogenic
RS1303080207 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1303092705 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
RS1303102528 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1303126572 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
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