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
RS1943290352 ARID2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1943311987 TRAPPC4 Health Risk Likely pathogenic Neurodevelopmental disorder with epilepsy, spasticity
RS1943319609 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1943323180 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943323407 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943336569 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943353362 C12orf4 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 66
RS1943354251 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943354738 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943362366 KDM5A Health Risk Likely pathogenic Intellectual disability, Seizure
RS1943368267 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943374805 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943376258 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1943381499 PTPRO Health Risk Likely pathogenic —
RS1943397479 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943398587 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943401478 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943409769 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943436869 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943441906 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1943442849 VWF Health Risk Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS1943444449 TYR Health Risk Likely pathogenic —
RS1943450738 TRAPPC4 Health Risk Likely pathogenic Neurodevelopmental disorder with epilepsy, spasticity
RS1943453335 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943456916 KMT2D Health Risk Pathogenic —
RS1943461045 KMT2D Health Risk Pathogenic Microcephaly, Kabuki syndrome 1
RS1943461604 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943478443 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943488528 ARID2 Health Risk Likely pathogenic —
RS1943503824 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943504725 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS1943505364 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS1943512272 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943518455 KMT2D Health Risk Pathogenic —
RS1943525176 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943527215 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943527583 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1943530881 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943537473 ARID2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1943551792 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943553565 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943554287 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943554955 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943556576 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943556915 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943557200 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943567949 KMT2D Health Risk Likely pathogenic Rubinstein Taybi like syndrome, Rubinstein Taybi like syndrome
RS1943574435 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943578039 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943579551 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS1943591477 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943599403 KMT2D Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1943600170 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943611659 VWF Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS1943618079 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943632639 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943638687 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS1943663823 KMT2D Health Risk Likely pathogenic —
RS1943672400 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Phosphate transport defect
RS1943676862 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glycogen storage disease
RS1943689487 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943689766 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943689944 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943690848 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943714221 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS1943725257 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943736070 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943736101 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943740392 CYP27A1 Health Risk Likely pathogenic —
RS1943741125 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943742261 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943754275 FERRY3 Health Risk Pathogenic —
RS1943755840 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943756375 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943763473 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943770060 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1943774392 GANAB Health Risk Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS1943783240 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1943789061 MED17 Health Risk Pathogenic —
RS1943789103 MED17 Health Risk Pathogenic —
RS1943798591 KMT2D Health Risk Pathogenic —
RS1943838983 GANAB Health Risk Likely pathogenic Polycystic kidney disease 3 with or without polycystic liver disease, Polycystic kidney disease 3 with or without polycystic liver disease
RS1943868758 MED17 Health Risk Pathogenic —
RS1943871666 MED17 Health Risk Pathogenic —
RS1943919610 MED17 Health Risk Likely pathogenic —
RS1943967240 MED17 Health Risk Likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS1943967317 MED17 Health Risk Pathogenic —
RS1943996205 TYR Health Risk Pathogenic Oculocutaneous albinism type 1B, Oculocutaneous albinism type 1B
RS1944034438 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS1944040055 MED17 Health Risk Pathogenic —
RS1944059755 VWF Health Risk Likely pathogenic von Willebrand disease type 1, von Willebrand disease type 1
RS1944061491 VWF Health Risk Pathogenic von Willebrand disorder, von Willebrand disorder
RS1944064401 TUB Health Risk Pathogenic —
RS1944165127 NCAPD3 Health Risk Likely pathogenic See cases, See cases
RS1944232310 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS1944274161 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS1944306056 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, ARID2-related BAFopathy
RS1944347921 AAAS Health Risk Pathogenic Glucocorticoid deficiency with achalasia, Glucocorticoid deficiency with achalasia
RS1944356405 AAAS Health Risk Pathogenic —
RS1944441987 AAAS Health Risk Pathogenic —
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