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
RS2540576131 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540576238 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540577060 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540577678 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540577777 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540577829 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540577903 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540578061 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540578127 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540580216 FGFR2 Health Risk Likely pathogenic —
RS2540585995 HNRNPA1 Health Risk Pathogenic Finnish upper limb-onset distal myopathy, Finnish upper limb-onset distal myopathy
RS2540586309 HNRNPA1 Health Risk Likely pathogenic Distal myopathy, Distal myopathy
RS2540592837 GLE1 Health Risk Pathogenic —
RS2540592843 GLE1 Health Risk Pathogenic/Likely pathogenic Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
RS2540593392 GLE1 Health Risk Pathogenic —
RS2540593632 GLE1 Health Risk Pathogenic —
RS2540595215 GLE1 Health Risk Pathogenic —
RS2540596707 GLE1 Health Risk Pathogenic —
RS2540596874 GLE1 Health Risk Pathogenic —
RS2540597317 GLE1 Health Risk Pathogenic —
RS2540597400 TRAPPC9 Health Risk Pathogenic —
RS2540597433 GLE1 Health Risk Pathogenic —
RS2540601198 GLE1 Health Risk Pathogenic —
RS2540601547 GLE1 Health Risk Pathogenic —
RS2540602131 GLE1 Health Risk Pathogenic —
RS2540602169 GLE1 Health Risk Pathogenic —
RS2540608495 GLE1 Health Risk Likely pathogenic —
RS2540608553 GLE1 Health Risk Pathogenic —
RS2540608655 GLE1 Health Risk Pathogenic —
RS2540608979 GLE1 Health Risk Likely pathogenic —
RS2540619128 SIK3 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Krakow type
RS2540627297 GLE1 Health Risk Pathogenic —
RS2540627387 GLE1 Health Risk Pathogenic —
RS2540635374 CRADD Health Risk Pathogenic/Likely pathogenic Familial isolated arrhythmogenic right ventricular dysplasia, Intellectual disability
RS2540637438 GLE1 Health Risk Likely pathogenic —
RS2540640409 B4GALNT1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2540642539 GLE1 Health Risk Pathogenic —
RS2540642684 GLE1 Health Risk Pathogenic —
RS2540647541 GLE1 Health Risk Pathogenic Lethal congenital contractural syndrome Finnish type, Lethal congenital contractural syndrome Finnish type
RS2540647761 GLE1 Health Risk Pathogenic —
RS2540650379 GLE1 Health Risk Pathogenic —
RS2540654534 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2540657675 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2540658045 B4GALNT1 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2540658466 B4GALNT1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2540661679 B4GALNT1 Health Risk Likely pathogenic —
RS2540664011 DIP2C Health Risk Pathogenic —
RS2540667597 B4GALNT1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2540668608 B4GALNT1 Health Risk Pathogenic Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26
RS2540668999 B4GALNT1 Health Risk Likely pathogenic Hereditary spastic paraplegia 26, Hereditary spastic paraplegia 26
RS2540671184 AGO2 Health Risk Likely pathogenic Premature ovarian failure 3, Premature ovarian failure 3
RS2540687833 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2540691084 AGO2 Health Risk Conflicting classifications of pathogenicity Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
RS2540702114 FGD4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4H, Charcot-Marie-Tooth disease type 4H
RS2540704889 AGO2 Health Risk Likely pathogenic Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
RS2540710558 NEUROG3 Health Risk Pathogenic —
RS2540722756 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS2540722766 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2540722839 RPS26 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2540722911 RPS26 Health Risk Likely pathogenic Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS2540723571 RPS26 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2540723664 RPS26 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2540724145 RPS26 Health Risk Likely pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2540724191 RPS26 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 10, Diamond-Blackfan anemia 10
RS2540726643 AGO2 Health Risk Likely pathogenic —
RS2540728555 KCNJ8 Health Risk Likely pathogenic —
RS2540729687 AGO2 Health Risk Likely pathogenic Lessel-Kreienkamp syndrome, Lessel-Kreienkamp syndrome
RS2540734022 SART3 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental defects and Developmental delay with 46
RS2540742315 ERBB3 Health Risk Pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2540742712 SART3 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental defects and Developmental delay with 46
RS2540749216 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2540749877 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2540749923 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS2540750383 FANCC Health Risk Pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS2540750688 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2540750877 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2540751147 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS2540752137 ST14 Health Risk Pathogenic —
RS2540753340 SART3 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental defects and Developmental delay with 46
RS2540755180 ST14 Health Risk Pathogenic —
RS2540756298 DAGLA Health Risk Pathogenic Benign paroxysmal tonic upgaze of childhood with ataxia, Benign paroxysmal tonic upgaze of childhood with ataxia
RS2540756454 DAGLA;MYRF-AS1 Health Risk Likely pathogenic Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS2540756474 DAGLA Health Risk Pathogenic Benign paroxysmal tonic upgaze of childhood with ataxia, Benign paroxysmal tonic upgaze of childhood with ataxia
RS2540756572 DAGLA Health Risk Pathogenic See cases, Benign paroxysmal tonic upgaze of childhood with ataxia
RS2540758398 ST14 Health Risk Pathogenic —
RS2540758459 ERBB3 Health Risk Likely pathogenic ERBB3-related disorder, ERBB3-related disorder
RS2540763693 ATP2B1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2540764901 PFKM Health Risk Pathogenic Glycogen storage disease, type VII
RS2540765020 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2540786278 FGD4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2540791541 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS2540803653 ATP2B1 Health Risk Pathogenic —
RS2540803952 ATP2B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ATP2B1-related disorder
RS2540804052 ATP2B1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2540804225 ATP2B1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 66
RS2540804470 ATP2B1 Health Risk Likely pathogenic ATP2B1-related disorder, ATP2B1-related disorder
RS2540806316 ABCC9 Health Risk Likely pathogenic Hypertrichotic osteochondrodysplasia Cantu type, Hypertrichotic osteochondrodysplasia Cantu type
RS2540808944 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia
RS2540809221 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS2540809415 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
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