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
RS148310479 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1483109904 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS1483110052 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS148311222 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS148311311 METTL4 Health Risk Likely pathogenic Clear cell carcinoma of kidney, Clear cell carcinoma of kidney
RS148311934 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS148312124 TRIP13 Health Risk Conflicting classifications of pathogenicity —
RS1483121850 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS148312697 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, ADAMTS13-related disorder
RS1483134756 ZFYVE26 Health Risk Likely pathogenic Hereditary spastic paraplegia 15, Hereditary spastic paraplegia 15
RS148313613 ITGA2 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 9, Inborn genetic diseases
RS148314522 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS1483148182 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS1483148769 TG Health Risk Likely pathogenic —
RS1483149274 SLC25A26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148315164 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS148315388 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, GBA2-related disorder
RS148315471 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS1483165002 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Neuronopathy
RS148317700 DENND5A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 49
RS148317787 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS148317871 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Colorectal cancer
RS148317876 SLC4A1 Health Risk Conflicting classifications of pathogenicity 11 conditions, 11 conditions
RS1483179196 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1483179702 COL7A1 Health Risk Likely pathogenic —
RS148317983 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Holoprosencephaly 9
RS148318643 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1483187442 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS148318789 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1483187894 ACAD9 Health Risk Pathogenic —
RS1483188996 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1483190866 TRAPPC11 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS148319769 ANLN Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 8, Focal segmental glomerulosclerosis 8
RS1483201828 POLG Health Risk Pathogenic/Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1483207355 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1483208659 GCK Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Hyperinsulinism due to glucokinase deficiency
RS148321018 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS148321416 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS1483214870 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS148321554 DSCAML1 Health Risk Conflicting classifications of pathogenicity —
RS148321868 GDF6 Health Risk Conflicting classifications of pathogenicity Klippel-Feil syndrome 1, autosomal dominant
RS148323208 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS148323523 DCHS1 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS1483237450 PGM3 Health Risk Likely pathogenic Immunodeficiency 23, Immunodeficiency 23
RS1483241325 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS148324299 PANX1 Health Risk Conflicting classifications of pathogenicity PANX1-related disorder, Oocyte maturation defect 7
RS148324626 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS148325559 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1483256607 C9 Health Risk Pathogenic —
RS148326870 ABCC6 Health Risk Conflicting classifications of pathogenicity —
RS148327798 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS148328539 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS148328750 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS148329626 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
RS1483311551 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS148331180 NDUFS3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS148331492 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Immunodeficiency 104
RS148331501 CHL1 Health Risk Conflicting classifications of pathogenicity —
RS148331800 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1483323590 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS148333059 DUOX2 Health Risk Pathogenic —
RS148334665 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS1483349215 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS1483350387 SON Health Risk Pathogenic —
RS1483352845 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS148335285 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1483354391 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS148335539 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1483364237 LRP2 Health Risk Pathogenic —
RS148337159 CDT1 Health Risk Conflicting classifications of pathogenicity CDT1-related disorder, CDT1-related disorder
RS148337492 FBXO38 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS148337824 SPTB Health Risk Conflicting classifications of pathogenicity Elliptocytosis 3, SPTB-related disorder
RS148338469 EMC1 Health Risk Conflicting classifications of pathogenicity Cerebellar atrophy, visual impairment
RS148339415 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Monosomy 7 myelodysplasia and leukemia syndrome 2
RS148339628 MAX Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, MAX-related disorder
RS1483404753 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS1483413866 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1483428079 EYS Health Risk Likely pathogenic —
RS148343670 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal dominant nonsyndromic hearing loss 11
RS148343756 APOC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS148344513 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, FAT4-related disorder
RS148344567 ACTN1 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 15, Platelet-type bleeding disorder 15
RS148345688 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Inborn genetic diseases
RS148346044 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1483461114 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS1483461355 GALT Health Risk Conflicting classifications of pathogenicity —
RS148346337 ACY1 Health Risk Conflicting classifications of pathogenicity Aminoacylase 1 deficiency, Aminoacylase 1 deficiency
RS1483471573 DNAH9 Health Risk Likely pathogenic —
RS148347501 AHNAK Health Risk Conflicting classifications of pathogenicity —
RS148347796 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS148348676 SPEN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148348866 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, EXOSC3-related disorder
RS148349018 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS148349532 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS148349630 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS148349860 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS148350434 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148351300 MCM3AP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148351779 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS148351929 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
« Prev 1 ... 697 698 699 700 701 702 703 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →