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
RS780331230 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS780332520 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS780332615 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS780332677 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS780333012 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS780333412 TK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial disease
RS780333531 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS780333650 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Menke-Hennekam syndrome 1
RS780333963 OPA1 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Abnormal brain morphology
RS780334454 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS780334804 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780334981 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS780335726 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS780336679 LRP4 Health Risk Pathogenic Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS780337094 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS780338105 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS780339406 MID1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780340075 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS780340378 GPIHBP1 Health Risk Likely pathogenic Hyperlipoproteinemia, type 1D
RS780340848 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 6B, Early-infantile DEE
RS780341115 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS780342162 HNF4A Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young type 1, Type 2 diabetes mellitus
RS780343109 AARS2 Health Risk Conflicting classifications of pathogenicity —
RS780343350 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, NEB-related disorder
RS780345145 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS780345232 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS780345312 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 28
RS780345806 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS780346245 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Inborn genetic diseases
RS780346984 SLC4A11 Health Risk Pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS780347544 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS780348174 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS780348618 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, Cardiovascular phenotype
RS780349023 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Erythrocytosis
RS780349259 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS780349712 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS780349960 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS780350631 HADHA Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS780350978 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS780351691 HADHB Health Risk Pathogenic/Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency 1
RS780351760 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS780352333 SCARB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome
RS780352868 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS780353083 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS780353966 POMT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780354662 VCX3A Health Risk Conflicting classifications of pathogenicity —
RS780354925 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS780356271 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS780356433 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS780358670 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS780359132 SYT2 Health Risk Conflicting classifications of pathogenicity —
RS780359925 POU1F1 Health Risk Pathogenic/Likely pathogenic Combined pituitary hormone deficiencies, genetic form
RS780360088 BMPER Health Risk Pathogenic —
RS780360360 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS780361833 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS780363320 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS780365246 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS780365310 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS780366664 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS780367353 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS780367532 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Burkitt lymphoma
RS780367770 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS780367967 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS780368037 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS780369106 LAMB1 Health Risk Conflicting classifications of pathogenicity LAMB1-related disorder, LAMB1-related disorder
RS780369368 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780369944 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS780370619 ENTPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 64, Hereditary spastic paraplegia
RS780371205 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS780371904 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Smith-Magenis syndrome
RS780373529 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS780374242 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS780374391 CREB3L3 Health Risk Conflicting classifications of pathogenicity Hypertriglyceridemia 1, Hypertriglyceridemia 2
RS780374709 GBE1 Health Risk Pathogenic Glycogen storage disease IV, classic hepatic
RS78037497 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780375338 CYP1B1 Health Risk Conflicting classifications of pathogenicity Irido-corneo-trabecular dysgenesis, Glaucoma 3A
RS780375782 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780375860 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS780376041 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS780376108 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS780378198 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS780378700 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS780379121 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS780379456 MIPEP Health Risk Likely pathogenic Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS780379693 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS780379750 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS780380199 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS780380861 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS780381269 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS780382505 TULP1 Health Risk Conflicting classifications of pathogenicity —
RS780382854 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS780383722 PNPT1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 13, Combined oxidative phosphorylation defect type 13
RS780384111 PCGF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780384504 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS780384800 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, ITGB3-related disorder
RS780386919 DST Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS780387525 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS780387568 PTPN11 Health Risk Conflicting classifications of pathogenicity LEOPARD syndrome 1, RASopathy
RS780388033 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8
RS780389157 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
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