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
RS77477448 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, CPT1A-related disorder
RS774774596 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774774648 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS774775053 C5 Health Risk Likely pathogenic —
RS774777021 BLM Health Risk Pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS774778158 ABCC2 Health Risk Pathogenic —
RS774778687 GYG1 Health Risk Pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS774779041 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS774779281 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS774780021 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS774780933 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774781089 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS774781617 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS774784084 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Knobloch syndrome
RS774784126 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS774784508 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS774784800 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS774785140 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 24, Meckel syndrome
RS774785239 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS774787025 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS774789534 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS774789734 RAI1 Health Risk Pathogenic —
RS774789966 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, COQ8A-related disorder
RS774791244 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS774791298 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS774791374 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cerebrooculofacioskeletal syndrome 1
RS774792617 C8B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774793263 SCN5A Health Risk Likely pathogenic —
RS774794772 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774794966 IGF1R Health Risk Pathogenic Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS774795340 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS774795540 LHX4 Health Risk Likely pathogenic —
RS774796257 DNAAF4 Health Risk Pathogenic/Likely pathogenic Dyslexia, susceptibility to
RS774796819 SLC11A2 Health Risk Conflicting classifications of pathogenicity —
RS774798236 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS774798866 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS774799042 KIAA0753 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome XV, Short-rib thoracic dysplasia 21 without polydactyly
RS774799167 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS774799606 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS774800736 MEN1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS774801990 ARID2 Health Risk Pathogenic Medulloblastoma WNT activated, Medulloblastoma WNT activated
RS774803573 IL2RA Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS774805224 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS774806132 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS774806552 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Progressive familial heart block type IB
RS774807410 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS774807554 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS774808086 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS774808238 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS774808316 ASNS Health Risk Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Spinocerebellar ataxia
RS774808496 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS774809466 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS774809989 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS774810198 NPHP1 Health Risk Likely pathogenic Joubert syndrome with renal defect, Joubert syndrome with renal defect
RS774810612 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS774810620 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS774810624 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal renal tubular acidosis, ATP6V0A4-related disorder
RS774811002 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS774811075 VARS2 Health Risk Likely pathogenic —
RS774814237 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774814318 ASPM Health Risk Pathogenic —
RS774814532 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS774815140 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS774815274 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS774815653 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS774816454 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, WDPCP-related disorder
RS774817302 LMNA Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS774817639 AAAS Health Risk Likely pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS774817891 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS774818130 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS774818779 SYN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774819000 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS774819442 TRPM1 Health Risk Conflicting classifications of pathogenicity —
RS774819810 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS774821089 ABHD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774822170 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS774822330 OCA2 Health Risk Pathogenic Inborn genetic diseases, Oculocutaneous albinism
RS774822539 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS774824164 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS774824204 GPX4 Health Risk Pathogenic —
RS774824767 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS774825173 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS774827204 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774827848 ATXN2 Health Risk Likely pathogenic, low penetrance Tip-toe gait, Tip-toe gait
RS774829203 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS774829996 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS774830832 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS774831009 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, NTHL1-related disorder
RS774831480 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS774831804 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS774832185 ADGRV1 Health Risk Likely pathogenic —
RS774832931 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS774833271 MPV17 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS774833489 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS774833524 KCNN2 Health Risk Pathogenic Motor tics, Severe intellectual disability
RS774834421 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS774835139 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS774835325 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS774835487 TRIO Health Risk Conflicting classifications of pathogenicity Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS774835884 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
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