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
RS777893707 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Perrault syndrome 4
RS777893794 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS777893926 OCA2 Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS777894117 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS777894367 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS777894412 SCN4B Health Risk Conflicting classifications of pathogenicity Long QT syndrome 10, Cardiovascular phenotype
RS777894746 GNPAT Health Risk Likely pathogenic GNPAT-related disorder, GNPAT-related disorder
RS777895333 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS777896485 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS777897759 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS777897973 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS777898357 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777898500 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Gastrointestinal stromal tumor
RS777899289 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS777901350 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS777901747 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Lethal acantholytic epidermolysis bullosa
RS777902159 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS777902199 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, ABCC2-related disorder
RS777903106 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS777903781 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS777904054 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS777904139 KANK4 Health Risk Conflicting classifications of pathogenicity —
RS777904359 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS777904670 WFS1 Health Risk Pathogenic/Likely pathogenic Cataract 41, Autosomal dominant nonsyndromic hearing loss 6
RS777905301 AMER1 Health Risk Conflicting classifications of pathogenicity Osteopathia striata with cranial sclerosis, Inborn genetic diseases
RS777905652 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777907037 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS777908113 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS777908589 ADSS1 Health Risk Pathogenic —
RS777908919 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS777909472 RCC1 Health Risk Pathogenic/Likely pathogenic INFECTION-INDUCED ACUTE-ONSET AXONAL NEUROPATHY, See cases
RS777909508 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS777909571 MAK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 62, Retinitis pigmentosa 62
RS777911169 COX10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS777911261 OTOGL Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS777912337 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS777913442 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS777913851 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Deficiency of steroid 11-beta-monooxygenase
RS777913899 MYL4 Health Risk Pathogenic Atrial fibrillation, familial
RS777913912 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS777916008 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS777916333 TRPM1 Health Risk Pathogenic —
RS777916645 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS777917827 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS777918411 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS777919630 CBS Health Risk Pathogenic/Likely pathogenic Intellectual disability, HYPERHOMOCYSTEINEMIA
RS777921628 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS777924443 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS777925360 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS777925486 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS777925640 MTOR Health Risk Conflicting classifications of pathogenicity Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS777927070 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS777927687 CYP24A1 Health Risk Pathogenic —
RS777930834 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS777932681 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS777932973 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS777934121 GTPBP3 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS777934295 JPH2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS777934535 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS777935791 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS777936704 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS777936780 C6 Health Risk Pathogenic —
RS777937112 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS777937235 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS777937352 VPS13C Health Risk Likely pathogenic —
RS777937565 PIGT Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS777937822 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Polysyndactyly 4
RS777937955 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS777938065 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS777939514 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS777939538 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS777939926 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS777940379 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS777940990 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS777941059 DNAJC21 Health Risk Pathogenic —
RS777941351 POLA2 Health Risk Likely pathogenic Telomere Biology Disorder, Telomere Biology Disorder
RS777942161 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777942571 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Mitochondrial disease
RS777944622 PDE6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777945001 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS777946704 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS777947329 CYP24A1 Health Risk Pathogenic/Likely pathogenic Hypercalcemia, infantile
RS777947820 MCM8 Health Risk Pathogenic —
RS777948762 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS777949388 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS777949492 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS777952986 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS777953013 SLC39A7 Health Risk Conflicting classifications of pathogenicity —
RS777953287 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS777955503 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8
RS777955781 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS777955784 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS777956037 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS777956287 SGSH Health Risk Pathogenic Sanfilippo syndrome, Mucopolysaccharidosis
RS777956934 CBS Health Risk Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS777958545 ZIC1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS777959324 PPFIA3 Health Risk Likely pathogenic PPFIA3-related disorder, PPFIA3-related disorder
RS777959783 PRRT2 Health Risk Pathogenic Seizures, benign familial infantile
RS777960413 MPZL2 Health Risk Likely pathogenic Hearing loss, autosomal recessive 111
RS777961930 MYO5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MYO5B-related disorder
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