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
RS2130810933 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130813174 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130813187 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130813849 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130813916 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130813918 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130813950 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130814064 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130816341 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130817575 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130817608 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130817714 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS2130819661 HGSNAT Health Risk Pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2130821307 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS2130821593 HGSNAT Health Risk Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS2130822351 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2130822605 DDHD2 Health Risk Likely pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS2130826217 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2130830261 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2130831990 TONSL Health Risk Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS2130845614 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS2130847575 TONSL Health Risk Likely pathogenic Sponastrime dysplasia, Sponastrime dysplasia
RS2130848885 DDHD2 Health Risk Pathogenic Hereditary spastic paraplegia 54, Hereditary spastic paraplegia 54
RS2130848959 TONSL Health Risk Pathogenic —
RS2130853055 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2130858031 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS2130858310 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130858335 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130858386 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130860471 KCNV2 Health Risk Pathogenic —
RS2130860673 KCNV2 Health Risk Pathogenic —
RS2130860955 KCNV2 Health Risk Pathogenic —
RS2130860973 KCNV2 Health Risk Pathogenic —
RS2130861136 KCNV2 Health Risk Pathogenic —
RS2130861209 KCNV2 Health Risk Pathogenic —
RS2130865334 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130865566 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS2130866580 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130866708 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130866735 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130872867 IFT56 Health Risk Pathogenic Biliary, renal
RS2130879011 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2130880784 PLEC Health Risk Likely pathogenic —
RS2130882939 GLIS3 Health Risk Likely pathogenic —
RS2130888037 TG Health Risk Pathogenic Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS2130891688 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2130902516 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130905407 SLC20A2 Health Risk Likely pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2130918080 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS2130918298 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2130933492 VPS13B Health Risk Likely pathogenic —
RS2130933596 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130933734 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130938370 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2130938733 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS2130941591 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130941863 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130943393 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2130944386 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
RS2130944445 DCLRE1C Health Risk Likely pathogenic Athabaskan severe combined immunodeficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2130956855 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS2130962934 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130972411 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS2130972502 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130972632 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130974126 DCLRE1C Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS2130975687 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130975930 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS2130976122 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130976129 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2130983856 MAN1B1 Health Risk Likely pathogenic Rafiq syndrome, Rafiq syndrome
RS2130986124 MAN1B1 Health Risk Pathogenic Rafiq syndrome, Rafiq syndrome
RS2130987702 CUX1 Health Risk Likely pathogenic Global developmental delay with or without impaired intellectual development, Global developmental delay with or without impaired intellectual development
RS2130990601 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2130990747 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2131001171 TOR1A Health Risk Pathogenic Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia
RS2131003180 SLC20A2 Health Risk Pathogenic —
RS2131003774 SLC20A2 Health Risk Pathogenic —
RS2131004790 TOR1A Health Risk Pathogenic Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia
RS2131006757 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2131006903 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS2131007486 TOR1A Health Risk Pathogenic Early-onset generalized limb-onset dystonia, Early-onset generalized limb-onset dystonia
RS2131008814 SLC20A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2131011877 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS2131012464 SPTAN1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131012797 SPTAN1 Health Risk Likely pathogenic Developmental delay with or without epilepsy, Developmental and epileptic encephalopathy
RS2131015097 DNAAF11 Health Risk Pathogenic Primary ciliary dyskinesia 19, Primary ciliary dyskinesia 19
RS2131023674 AGPAT2 Health Risk Likely pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS2131023956 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS2131026813 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS2131027694 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS2131028639 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2131029946 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2131030007 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2131030113 VPS13A Health Risk Pathogenic —
RS2131030226 VPS13A Health Risk Pathogenic —
RS2131030277 VPS13A Health Risk Pathogenic —
RS2131030804 SPTAN1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 5
RS2131032901 LHX3 Health Risk Likely pathogenic Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS2131032918 LHX3 Health Risk Pathogenic —
« Prev 1 ... 1736 1737 1738 1739 1740 1741 1742 ... 4509 Next »

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

Get Started Free →