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
RS2131153753 VPS13A Health Risk Likely pathogenic —
RS2131158061 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31A
RS2131162364 SPTAN1 Health Risk Conflicting classifications of pathogenicity Neuromuscular disease, Neuromuscular disease
RS2131164463 SPTAN1 Health Risk Likely pathogenic SPTAN1-related disorder, SPTAN1-related disorder
RS2131165749 TDRD7 Health Risk Pathogenic Cataract 36, Cataract 36
RS2131167421 NUP188 Health Risk Likely pathogenic Microcephaly, Sandestig-stefanova syndrome
RS2131175203 DNM1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS2131177211 VPS13A Health Risk Likely pathogenic —
RS2131179725 VPS13A Health Risk Pathogenic —
RS2131179937 VPS13A Health Risk Pathogenic —
RS2131179950 VPS13A Health Risk Pathogenic —
RS2131186551 NUP188 Health Risk Likely pathogenic Microcephaly, Sandestig-stefanova syndrome
RS2131192568 ADAMTSL2 Health Risk Likely pathogenic Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS2131192653 SLC20A2 Health Risk Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2131193011 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2131193680 VPS13A Health Risk Pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS2131195627 VPS13A Health Risk Pathogenic —
RS2131195653 VPS13A Health Risk Pathogenic —
RS2131195691 VPS13A Health Risk Pathogenic —
RS2131207174 TEK Health Risk Likely pathogenic —
RS2131207249 TEK Health Risk Likely pathogenic —
RS2131215770 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2131216563 PLEC Health Risk Likely pathogenic —
RS2131216928 GRIN1 Health Risk Pathogenic Developmental and epileptic encephalopathy 101, Developmental and epileptic encephalopathy 101
RS2131217643 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131227624 SLC20A2 Health Risk Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2131227936 TEK Health Risk Pathogenic Multiple cutaneous and mucosal venous malformations, Vascular malformation
RS2131228068 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2131228451 SLC20A2 Health Risk Pathogenic —
RS2131230395 VPS13A Health Risk Pathogenic —
RS2131231475 VPS13A Health Risk Pathogenic —
RS2131231500 VPS13A Health Risk Pathogenic —
RS2131235872 COQ4 Health Risk Likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS2131236556 TMEM70 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS2131236570 TMEM70 Health Risk Pathogenic Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
RS2131239154 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131239517 TEK Health Risk Pathogenic —
RS2131246743 TEK Health Risk Likely pathogenic Segmental undergrowth associated with venous malformation without capillary component, Segmental undergrowth associated with venous malformation without capillary component
RS2131246761 TEK Health Risk Likely pathogenic Segmental undergrowth associated with venous malformation without capillary component, Segmental undergrowth associated with venous malformation without capillary component
RS2131246864 TEK Health Risk Pathogenic —
RS2131249868 SLC27A4 Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS2131259309 SLC27A4 Health Risk Likely pathogenic —
RS2131265398 SLC27A4 Health Risk Pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS2131266023 TEK Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS2131266064 SLC27A4 Health Risk Pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS2131266202 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Williams syndrome
RS2131266696 PLEC Health Risk Likely pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2131267421 VPS13A Health Risk Pathogenic —
RS2131267665 SPTAN1 Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Distal spinal muscular atrophy
RS2131267739 TEK Health Risk Likely pathogenic Venous malformation, Venous malformation
RS2131267744 TEK Health Risk Pathogenic Vascular malformation, Vascular malformation
RS2131267771 TEK Health Risk Pathogenic/Likely pathogenic Segmental undergrowth associated with venous malformation without capillary component, Vascular malformation
RS2131269203 NR5A1 Health Risk Likely pathogenic —
RS2131269262 NR5A1 Health Risk Pathogenic Disorder of sexual differentiation, Disorder of sexual differentiation
RS2131272367 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131277629 NR5A1 Health Risk Likely pathogenic 46, XY sex reversal 3
RS2131277648 NR5A1 Health Risk Likely pathogenic 46, XY sex reversal 3
RS2131277756 NR5A1 Health Risk Pathogenic 46, XY partial gonadal dysgenesis
RS2131279850 NR5A1 Health Risk Pathogenic Oligosynaptic infertility, 46
RS2131279852 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS2131279881 NR5A1 Health Risk Pathogenic —
RS2131283599 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS2131284343 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS2131286907 NR5A1 Health Risk Likely pathogenic Premature ovarian failure 7, Premature ovarian failure 7
RS2131286914 NR5A1 Health Risk Pathogenic 46, XY disorder of sex development
RS2131286921 NR5A1 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2131289685 NR5A1 Health Risk Pathogenic Disorder of sexual differentiation, 46
RS2131289687 NR5A1 Health Risk Pathogenic 46, XY disorder of sex development
RS2131289701 NR5A1 Health Risk Pathogenic Oligosynaptic infertility, 46
RS2131289726 NR5A1 Health Risk Pathogenic Disorder of sexual differentiation, Disorder of sexual differentiation
RS2131289737 NR5A1 Health Risk Pathogenic 46, XY disorder of sex development
RS2131289790 NR5A1 Health Risk Likely pathogenic 46, XY sex reversal 3
RS2131289833 NR5A1 Health Risk Pathogenic Disorder of sexual differentiation, Disorder of sexual differentiation
RS2131289951 NR5A1 Health Risk Likely pathogenic —
RS2131289973 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS2131289982 NR5A1 Health Risk Pathogenic 46, XY disorder of sex development
RS2131290009 NR5A1 Health Risk Likely pathogenic 46, XY sex reversal 3
RS2131290040 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS2131291544 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131293113 VPS13A Health Risk Pathogenic —
RS2131293274 VPS13A Health Risk Pathogenic —
RS2131293320 VPS13A Health Risk Pathogenic —
RS2131294861 SETX Health Risk Likely pathogenic —
RS2131296288 SOHLH1 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2131297379 GRIN1 Health Risk Pathogenic —
RS2131297403 GRIN1 Health Risk Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131297434 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131297826 DNM1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 31A
RS2131298613 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131298649 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131298697 GRIN1 Health Risk Likely pathogenic —
RS2131299136 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131299235 GRIN1 Health Risk Likely pathogenic —
RS2131299400 GRIN1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131299485 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS2131299944 GRIN1 Health Risk Likely pathogenic —
RS2131302722 GRIN1 Health Risk Pathogenic Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS2131304244 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2131307481 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131307878 KRIT1 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
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