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
RS781325598 PGAP1 Health Risk Pathogenic Intellectual disability, autosomal recessive 42
RS781326320 PIK3AP1 Health Risk Conflicting classifications of pathogenicity Infantile spasms, Infantile spasms
RS781326398 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, DYNC2H1-related disorder
RS781327088 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS781327291 TCTN3 Health Risk Likely pathogenic —
RS781328659 ROBO1 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Neurooculorenal syndrome
RS781329984 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS781330134 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS781330809 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Hyperekplexia 3
RS781331005 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Ovarian serous cystadenocarcinoma
RS781331325 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS781331391 ASL Health Risk Pathogenic Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS781332563 ABCA4 Health Risk Pathogenic —
RS781332656 ERCC6 Health Risk Pathogenic —
RS781333644 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS781333691 DUOX2 Health Risk Pathogenic —
RS781334233 TJP2 Health Risk Pathogenic —
RS781336428 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS781336574 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS781337846 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS781338395 BCL11B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781339303 PCDH15 Health Risk Likely pathogenic Progressive cone dystrophy (without rod involvement), Progressive cone dystrophy (without rod involvement)
RS781339765 B3GALNT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS781340220 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS781341719 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS781342495 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, SLC12A3-related disorder
RS781342502 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS781343581 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS781343756 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS781344591 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS781345149 DNM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS781345808 TTR Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Tip-toe gait
RS781347467 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS781347519 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS781347673 MYO1E Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS781349168 ABCC2 Health Risk Pathogenic —
RS781350389 APOA1 Health Risk Likely pathogenic Hypoalphalipoproteinemia, primary
RS781351100 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS781351306 SUOX Health Risk Likely pathogenic Sulfocysteinuria, Sulfocysteinuria
RS781352764 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS781353760 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS781353815 TGFB3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome
RS78135392 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, ELP1-related disorder
RS781354327 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS781356156 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS781356492 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS781357184 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, EAST syndrome
RS781357804 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS781358829 TRPV4 Health Risk Likely pathogenic Metatropic dysplasia, Metatropic dysplasia
RS781358846 PDLIM3 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS781359405 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinal dystrophy
RS781360383 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS781360671 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS781360770 POLE Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS781361302 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS781361326 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS781361596 DSPP Health Risk Pathogenic/Likely pathogenic Dentinogenesis imperfecta type 3, Dentinogenesis imperfecta type 2
RS781361976 PRSS12 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 1
RS781362020 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS781362878 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS781363662 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS781364007 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS781364197 PNPLA6 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS781364316 HNF4A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS781365086 DEAF1 Health Risk Likely pathogenic —
RS781366461 NODAL Health Risk Conflicting classifications of pathogenicity Heart, malformation of
RS781366964 NBEAL2 Health Risk Pathogenic Gray platelet syndrome, Gray platelet syndrome
RS781367354 CYP24A1 Health Risk Likely pathogenic Hypercalcemia, infantile
RS781367500 FCSK Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation with defective fucosylation 2, Congenital disorder of glycosylation with defective fucosylation 2
RS781367784 CPLANE1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 6, Joubert syndrome 17
RS781368801 BCHE Health Risk Likely pathogenic Deficiency of butyrylcholinesterase, BCHE-related disorder
RS781368899 PKHD1 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal recessive polycystic kidney disease
RS781369291 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS781369724 KCNQ1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 1
RS781369773 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS781370363 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS781370484 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS781370939 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS781371223 TMEM147 Health Risk Pathogenic Neurodevelopmental disorder with facial dysmorphism, absent language
RS781371665 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS781372148 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS781372292 SLC25A38 Health Risk Conflicting classifications of pathogenicity Sideroblastic anemia 2, Sideroblastic anemia 2
RS781373863 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS781374930 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS781375160 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS781375358 PDE6B Health Risk Pathogenic —
RS781376204 TMPRSS3 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS781376762 MME Health Risk Pathogenic —
RS781376927 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS781377062 UNC45A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781377291 PDE6A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS781377703 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Hyperinsulinism due to glucokinase deficiency
RS781379291 SLC1A2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 41
RS781380101 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS781380886 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS781382810 RFX3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781383498 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS781383926 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS781384784 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Colorectal cancer
RS781387019 GPT2 Health Risk Likely pathogenic —
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