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
RS2124851950 GLS Health Risk Likely pathogenic Infantile cataract, skin abnormalities
RS2124857065 ARF1 Health Risk Likely pathogenic Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
RS2124857424 ARF1 Health Risk Pathogenic Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
RS2124857427 ARF1 Health Risk Pathogenic Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
RS2124857932 ARF1 Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
RS2124857939 ARF1 Health Risk Likely pathogenic Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
RS2124858360 ARF1 Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
RS2124858642 CRELD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Jeffries-Lakhani neurodevelopmental syndrome
RS2124882927 UNC80 Health Risk Pathogenic —
RS2124894940 GLS Health Risk Likely pathogenic —
RS2124895900 UNC80 Health Risk Likely pathogenic —
RS2124905063 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124905507 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124905654 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124905696 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124906663 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124906690 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124907082 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124907093 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124908675 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124908722 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124908740 SLC6A1 Health Risk Likely pathogenic —
RS2124908824 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124912717 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124915767 GLS Health Risk Pathogenic Developmental and epileptic encephalopathy, 71
RS2124917812 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124917929 SLC6A1 Health Risk Likely pathogenic —
RS2124924369 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124924504 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124924511 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124924932 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124924957 SLC6A1 Health Risk Pathogenic/Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124924976 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124925120 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2124926212 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124926277 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124926302 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124927471 ITPR1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 29, Inborn genetic diseases
RS2124930786 UNC80 Health Risk Likely pathogenic Hypotonia, infantile
RS2124930894 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124930966 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124931871 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124932154 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124932157 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124932194 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124936720 SLC6A1 Health Risk Pathogenic —
RS2124942597 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2124953130 UNC80 Health Risk Pathogenic —
RS2124961184 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS2124964267 UNC80 Health Risk Likely pathogenic —
RS2124966088 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS2124966117 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS2124966280 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS2124966375 GJC2 Health Risk Pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS2124966655 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS2124966664 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Abnormality of the nervous system
RS2124966792 GJC2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2124966840 GJC2 Health Risk Likely pathogenic —
RS2124967068 GJC2 Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 44
RS2124970985 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2124974541 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS2124974621 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2124975164 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2124976652 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS2124981606 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS2124988278 CAV3 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2124988406 CAV3 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS2124988641 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Hypertrophic cardiomyopathy 1
RS2124989402 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2124992262 FANCD2 Health Risk Pathogenic —
RS2124994410 UNC80 Health Risk Likely pathogenic —
RS2124996603 STAT1 Health Risk Likely pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2124996723 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2124998835 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2124999155 ADAM17 Health Risk Pathogenic Inflammatory skin and bowel disease, neonatal
RS2125000228 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS2125000306 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2125000318 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2125000516 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2125000569 FANCD2 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2125000621 COL4A4 Health Risk Likely pathogenic Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS2125001180 TPO Health Risk Likely pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS2125001412 COL4A4 Health Risk Likely pathogenic —
RS2125008314 XPC Health Risk Pathogenic —
RS2125008340 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS2125008883 NSDHL Health Risk Likely pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS2125013239 UNC80 Health Risk Likely pathogenic —
RS2125015914 NSDHL Health Risk Likely pathogenic —
RS2125016932 UNC80 Health Risk Likely pathogenic Hypotonia, infantile
RS2125019136 UNC80 Health Risk Pathogenic —
RS2125021778 XPC Health Risk Pathogenic —
RS2125022131 XPC Health Risk Likely pathogenic —
RS2125024504 XPC Health Risk Likely pathogenic Melanoma, Melanoma
RS2125024977 XPC Health Risk Pathogenic —
RS2125025310 XPC Health Risk Pathogenic —
RS2125025539 XPC Health Risk Pathogenic —
RS2125025886 XPC Health Risk Pathogenic —
RS2125025992 XPC Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, group C
RS2125026245 XPC Health Risk Pathogenic —
RS2125026589 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
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