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
RS1779472995 CDK19 Health Risk Likely pathogenic —
RS1779473436 CDK19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 87
RS1779473650 CDK19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 87
RS1779483440 CARD11 Health Risk Likely pathogenic —
RS1779530897 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1779626148 CARD11 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1779660599 TNXB Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS1779702214 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1779703136 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1779896481 PRKN Health Risk Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS1779898374 LFNG Health Risk Pathogenic Spondylocostal dysostosis 3, autosomal recessive
RS1779961435 GCM2 Health Risk Likely pathogenic Familial hypoparathyroidism, Familial hypoparathyroidism
RS1780027332 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1780098219 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1780109910 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1780112044 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1780191273 CARD11 Health Risk Likely pathogenic Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1780193710 TRDN Health Risk Pathogenic/Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5
RS1780193930 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS1780213490 RMND1 Health Risk Pathogenic Combined oxidative phosphorylation defect type 11, Combined oxidative phosphorylation defect type 11
RS1780213989 RMND1 Health Risk Pathogenic —
RS1780257580 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1780259380 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1780315559 TNXB Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1780336606 RMND1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1780401677 ADGRV1 Health Risk Pathogenic —
RS1780417016 ADGRV1 Health Risk Pathogenic —
RS1780417131 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1780440992 CARD11;CARD11-AS1 Health Risk Likely pathogenic —
RS1780545912 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1780690164 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1780700010 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1780901751 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Lafora disease
RS1780924305 LMF1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1781001592 UCHL1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia 79A, autosomal dominant
RS1781002042 UCHL1 Health Risk Pathogenic Spastic paraplegia 79A, autosomal dominant
RS1781070341 UCHL1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia 79A, autosomal dominant
RS1781162727 TRDN Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 5
RS1781236368 COXFA4 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 21
RS1781327256 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1781335411 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1781395670 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1781398399 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1781452558 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1781455687 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1781468348 TAB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1781476734 DSE Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1781486223 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1781486601 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS1781489538 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1781498987 LOC126859827;TAB2 Health Risk Pathogenic —
RS1781502574 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1781507295 DNAAF5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 18
RS1781524947 TAB2 Health Risk Pathogenic Congenital heart defects, multiple types
RS1781526992 SASH1 Health Risk Likely pathogenic Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
RS1781533816 TAB2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS1781557432 PNLDC1 Health Risk Likely pathogenic Non-obstructive azoospermia, Oligospermia
RS1781562565 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS1781571282 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS1781592001 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1781606569 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1781623229 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1781631365 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1781674062 ASCC3 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 81
RS1781745482 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS1781797650 LAMA4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1781845988 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS1781877793 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS1781905532 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1781907458 DNAAF5 Health Risk Likely pathogenic Primary ciliary dyskinesia 18, Primary ciliary dyskinesia 18
RS1781951075 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1782005506 IMPG1 Health Risk Pathogenic —
RS1782008883 IMPG1 Health Risk Conflicting classifications of pathogenicity Benign concentric annular macular dystrophy, Benign concentric annular macular dystrophy
RS1782020453 IMPG1 Health Risk Pathogenic —
RS1782064827 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1782073790 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1782086229 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1782086875 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1782110783 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1782130455 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1782160930 PDSS2 Health Risk Likely pathogenic Coenzyme Q10 deficiency, primary
RS1782169595 ENPP1 Health Risk Pathogenic —
RS1782216591 TAB2 Health Risk Pathogenic/Likely pathogenic TAB2-related disorder, TAB2-related disorder
RS1782223593 TAB2 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, multiple types
RS1782230124 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1782331450 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1782332430 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1782333085 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1782343581 BLTP1 Health Risk Likely pathogenic Alkuraya-Kucinskas syndrome, Alkuraya-Kucinskas syndrome
RS1782357136 ENPP1 Health Risk Pathogenic Hypophosphatemic rickets, autosomal recessive
RS1782389325 RARS2 Health Risk Likely pathogenic —
RS1782401252 RARS2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1782411099 TOMM7 Health Risk Pathogenic/Likely pathogenic See cases, Garg-Mishra progeroid syndrome
RS1782436364 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1782451817 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1782451970 ENPP1 Health Risk Pathogenic/Likely pathogenic Arterial calcification, generalized
RS1782465728 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1782473185 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colon cancer, Hereditary nonpolyposis colorectal neoplasms
RS1782497993 DNAAF5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1782607759 PKHD1 Health Risk Likely pathogenic PKHD1-related disorder, PKHD1-related disorder
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