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
RS2515555879 ZNF335 Health Risk Pathogenic —
RS2515557358 ASXL1 Health Risk Likely pathogenic Myelodysplastic syndrome, Myelodysplastic syndrome
RS2515562198 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515563035 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515564525 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515564558 ASXL1 Health Risk Pathogenic —
RS2515564652 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515566678 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515567183 ASXL1 Health Risk Pathogenic —
RS2515571377 ASXL1 Health Risk Pathogenic —
RS2515571395 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515573069 ADNP Health Risk Conflicting classifications of pathogenicity —
RS2515573849 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related disorder, ADNP-related disorder
RS2515574625 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515574798 ASXL1 Health Risk Pathogenic —
RS2515576575 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515577949 ARFGEF2 Health Risk Likely pathogenic —
RS2515578092 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515578225 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515578388 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515578564 ADNP Health Risk Pathogenic —
RS2515578989 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515579143 ADNP Health Risk Pathogenic —
RS2515579173 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515579204 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515579840 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515579850 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515579984 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515580826 ADNP Health Risk Pathogenic —
RS2515580879 ADNP Health Risk Pathogenic —
RS2515581500 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515581836 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515581917 ADNP Health Risk Pathogenic —
RS2515581999 ASXL1 Health Risk Pathogenic —
RS2515582457 ASXL1 Health Risk Pathogenic —
RS2515582691 ASXL1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2515582964 CEP250 Health Risk Pathogenic —
RS2515583042 CEP250 Health Risk Pathogenic —
RS2515583794 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515584691 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Myelodysplastic syndrome
RS2515585006 ADNP Health Risk Pathogenic —
RS2515585029 ADNP Health Risk Likely pathogenic —
RS2515585150 PLCG1 Health Risk Pathogenic Immune dysregulation, autoimmunity
RS2515585670 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS2515585891 SLC2A10 Health Risk Likely pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS2515586557 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515586732 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2515586999 STK4 Health Risk Likely pathogenic Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
RS2515587114 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS2515587165 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515587479 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS2515588146 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2515588166 ASXL1 Health Risk Pathogenic —
RS2515588341 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515589116 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2515589258 SLC2A10 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2515589298 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515589365 ADNP Health Risk Pathogenic —
RS2515589583 ASXL1 Health Risk Pathogenic —
RS2515591260 ASXL1 Health Risk Pathogenic —
RS2515591610 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS2515591866 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515592600 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2515593126 ADNP Health Risk Likely pathogenic ADNP-related disorder, ADNP-related disorder
RS2515594540 SLC2A10 Health Risk Likely pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS2515610149 DNMT3B Health Risk Pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS2515612990 MMP9 Health Risk Likely pathogenic Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS2515613848 STK4 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2515621342 ADNP Health Risk Pathogenic —
RS2515621585 ADNP Health Risk Pathogenic —
RS2515621708 ADNP Health Risk Pathogenic —
RS2515621745 ADNP Health Risk Pathogenic —
RS2515621772 ADNP Health Risk Pathogenic —
RS2515631656 SLC12A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34
RS2515632815 STK4 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2515634781 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS2515637434 SLC12A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34
RS2515639213 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2515639218 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2515640727 STK4 Health Risk Likely pathogenic Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
RS2515641701 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2515641952 SLC12A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34
RS2515643922 HNF4A Health Risk Pathogenic —
RS2515644041 HNF4A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2515644510 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2515644515 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2515644807 DNMT3B Health Risk Likely pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS2515644908 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2515648455 DNMT3B Health Risk Likely pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS2515649366 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2515650510 HNF4A Health Risk Pathogenic Monogenic diabetes, HNF4A-related disorder
RS2515650628 HNF4A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS2515651025 HNF4A Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2515651269 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2515651295 HNF4A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2515652318 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2515653495 SLC12A5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 34
RS2515654961 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS2515657453 DNMT3B Health Risk Likely pathogenic Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS2515660735 ATP9A Health Risk Pathogenic Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities
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