SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886041773 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS886041774 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS886041775 IL1RAPL1 Health Risk Pathogenic —
RS886041776 FUS Health Risk Pathogenic —
RS886041778 DYRK1A Health Risk Pathogenic —
RS886041779 KMT2D Health Risk Pathogenic Neoplasm, Neoplasm
RS886041780 FGFR1 Health Risk Pathogenic —
RS886041781 AHDC1 Health Risk Pathogenic AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS886041782 JAG1 Health Risk Pathogenic/Likely pathogenic Deafness, congenital heart defects
RS886041783 CHD2 Health Risk Pathogenic —
RS886041785 ASXL3 Health Risk Pathogenic —
RS886041786 SCNN1G Health Risk Pathogenic —
RS886041787 SRCAP Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS886041788 TUBGCP6 Health Risk Pathogenic/Likely pathogenic —
RS886041789 TSC2 Health Risk Pathogenic —
RS886041790 ACTB Health Risk Likely pathogenic —
RS886041791 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, Inborn genetic diseases
RS886041792 NFIX Health Risk Pathogenic —
RS886041793 PDHA1 Health Risk Pathogenic —
RS886041794 TK2 Health Risk Pathogenic —
RS886041795 PHKA2 Health Risk Pathogenic —
RS886041796 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS886041797 EHMT1 Health Risk Pathogenic —
RS886041798 CNKSR2 Health Risk Pathogenic —
RS886041799 NCF1 Health Risk Pathogenic —
RS886041800 EFNB1 Health Risk Pathogenic —
RS886041801 MYCN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS886041802 DMD Health Risk Pathogenic —
RS886041803 NKX2-1 Health Risk Pathogenic —
RS886041804 ARID1B Health Risk Pathogenic —
RS886041805 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, 6 conditions
RS886041806 MFSD8 Health Risk Pathogenic —
RS886041807 HNRNPK Health Risk Pathogenic Au-Kline syndrome, Au-Kline syndrome
RS886041808 CHD7 Health Risk Pathogenic —
RS886041809 KAT6A Health Risk Pathogenic —
RS886041810 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS886041811 EFNB1 Health Risk Pathogenic —
RS886041813 SACS Health Risk Pathogenic —
RS886041814 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS886041815 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS886041816 PTEN Health Risk Pathogenic —
RS886041817 COL1A1 Health Risk Pathogenic —
RS886041818 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS886041819 ARID1B Health Risk Pathogenic —
RS886041820 HNF1B Health Risk Pathogenic/Likely pathogenic Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS886041821 FOXP1 Health Risk Pathogenic —
RS886041822 ANKRD11 Health Risk Pathogenic —
RS886041823 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS886041824 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS886041825 KAT6A Health Risk Pathogenic —
RS886041828 NFIX Health Risk Pathogenic —
RS886041829 ANKRD11 Health Risk Pathogenic —
RS886041830 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Inborn genetic diseases
RS886041831 EFTUD2 Health Risk Pathogenic —
RS886041832 NSD1 Health Risk Pathogenic —
RS886041833 DYRK1A Health Risk Pathogenic —
RS886041834 KMT2A Health Risk Pathogenic/Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS886041835 AGK Health Risk Pathogenic —
RS886041836 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS886041837 PHEX Health Risk Pathogenic —
RS886041838 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS886041839 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Thyroid cancer
RS886041840 PHEX Health Risk Pathogenic —
RS886041841 RAPSN Health Risk Pathogenic —
RS886041843 COL2A1 Health Risk Pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS886041844 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS886041845 SLC6A8 Health Risk Pathogenic —
RS886041846 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS886041847 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Neurodevelopmental abnormality
RS886041848 SCN5A Health Risk Pathogenic —
RS886041850 AAAS Health Risk Pathogenic —
RS886041851 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS886041852 SCN1A Health Risk Pathogenic —
RS886041853 PHEX Health Risk Pathogenic —
RS886041854 EMD Health Risk Pathogenic/Likely pathogenic X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 1
RS886041855 KDM5C Health Risk Pathogenic Thyroid cancer, nonmedullary
RS886041856 KMT2A Health Risk Pathogenic/Likely pathogenic intellectual deficiency, Wiedemann-Steiner syndrome
RS886041857 CHD2 Health Risk Pathogenic —
RS886041858 MYT1L Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 39
RS886041859 FBN1 Health Risk Pathogenic —
RS886041860 KCNQ2 Health Risk Conflicting classifications of pathogenicity KCNQ2-related disorder, Early-infantile DEE
RS886041861 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS886041862 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS886041863 WDR62 Health Risk Pathogenic —
RS886041865 TTN Health Risk Pathogenic —
RS886041866 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS886041867 SDHA Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 5
RS886041868 JAG1 Health Risk Pathogenic —
RS886041869 SHANK3 Health Risk Pathogenic —
RS886041870 CPLANE1 Health Risk Pathogenic —
RS886041871 COL1A1 Health Risk Pathogenic —
RS886041872 CDKL5 Health Risk Pathogenic —
RS886041873 ACTG1 Health Risk Likely pathogenic —
RS886041874 PHGDH Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Seizure
RS886041875 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS886041876 HUWE1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked syndromic
RS886041877 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS886041878 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS886041879 CREBBP Health Risk Pathogenic —
RS886041880 OCRL Health Risk Pathogenic —
« Prev 1 ... 3931 3932 3933 3934 3935 3936 3937 ... 4010 Next »

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

Get Started Free →