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
RS776043658 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS776043976 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS776045429 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 17, Hypertrophic cardiomyopathy
RS776048628 SCN8A Health Risk Likely pathogenic —
RS776048746 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS776049462 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS776050072 LCA5 Health Risk Pathogenic —
RS776050286 NEFH Health Risk Conflicting classifications of pathogenicity —
RS776050413 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS776050949 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS776051221 PCDH15 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS776051361 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776053920 HERC1 Health Risk Pathogenic HERC1-related disorder, HERC1-related disorder
RS776054057 CEP152 Health Risk Pathogenic/Likely pathogenic Microcephaly 9, primary
RS776054094 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS776054795 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS776055539 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy 6B
RS776056801 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776056840 CYP11A1 Health Risk Pathogenic Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS776056868 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS776056911 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, Cornelia de Lange syndrome 3
RS776056927 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS776058464 TCF20 Health Risk Conflicting classifications of pathogenicity —
RS776058661 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS776059398 NR0B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hypoplasia, X-linked
RS776059611 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS776059672 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature
RS776059693 PAX3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776060304 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS776061068 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS776061161 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS776061422 GPR153 Health Risk Likely pathogenic Childhood-onset schizophrenia, Childhood-onset schizophrenia
RS776063846 CFHR5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776064107 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS776065067 MTSS2 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with ocular anomalies and distinctive facial features, Intellectual developmental disorder with ocular anomalies and distinctive facial features
RS776065095 TUBGCP6 Health Risk Pathogenic/Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS776065389 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776065579 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS776065839 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS776067239 MKI67 Health Risk Conflicting classifications of pathogenicity —
RS776068111 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS776068119 SLC26A4 Health Risk Likely pathogenic —
RS776068398 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS77606940 NDUFV3 Health Risk Conflicting classifications of pathogenicity NDUFV3-related disorder, Cervical cancer
RS776070899 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast and/or ovarian cancer
RS776073354 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Autosomal dominant centronuclear myopathy
RS776073429 CLCN1 Health Risk Pathogenic Batten-Turner congenital myopathy, Congenital myotonia
RS776074348 COQ4 Health Risk Pathogenic/Likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10
RS776075679 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS776076922 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS776079621 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776082304 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS776084073 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS776085350 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS776085810 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776087856 ABCC2 Health Risk Pathogenic —
RS776088292 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS776088779 VDR Health Risk Pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS776089249 POLR1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776089509 KIF1C Health Risk Conflicting classifications of pathogenicity —
RS776090013 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4J
RS776091285 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS776092624 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS776093293 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome 3
RS776093527 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS776094913 CEP104 Health Risk Pathogenic Joubert syndrome 25, Joubert syndrome 25
RS776095587 LRPPRC Health Risk Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS776095655 SLC2A1 Health Risk Pathogenic Encephalopathy due to GLUT1 deficiency, GLUT1 deficiency syndrome 1
RS776096881 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS776097223 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS776097939 ZNF408 Health Risk Conflicting classifications of pathogenicity —
RS776098499 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS776098539 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS776098853 NEK1 Health Risk Conflicting classifications of pathogenicity Motor neuron disease, Short-rib thoracic dysplasia 6 with or without polydactyly
RS776099423 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776099605 IFT122 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS776099721 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS776100468 ABCC8 Health Risk Conflicting classifications of pathogenicity —
RS776101722 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS776101957 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS776102549 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS776102861 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS776103507 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Microform holoprosencephaly
RS776103734 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS776103948 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS776104105 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS776104521 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS776105083 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Hereditary cancer-predisposing syndrome
RS776106629 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776107971 GNPTG Health Risk Pathogenic GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS776108587 FOXP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776109136 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS776109731 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS776110112 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS776110243 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS776110440 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS776111123 PCDH12 Health Risk Pathogenic/Likely pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS776113114 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS776114073 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS776114731 NDUFS1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
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