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
RS1064796762 STAT3 Health Risk Likely pathogenic —
RS1064796764 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS1064796765 DYNC1H1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 13
RS1064796766 EBF3 Health Risk Pathogenic —
RS1064796768 PARN Health Risk Pathogenic —
RS1064796771 ATP1A2 Health Risk Likely pathogenic —
RS1064796772 ASXL1 Health Risk Pathogenic —
RS1064796774 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Inborn genetic diseases
RS1064796776 KMT2A Health Risk Likely pathogenic —
RS1064796777 ANOS1 Health Risk Pathogenic —
RS1064796781 WFS1 Health Risk Pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1064796787 CLN6 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS1064796790 SMC3 Health Risk Likely pathogenic —
RS1064796791 AFG2A Health Risk Likely pathogenic —
RS1064796793 CNGB3 Health Risk Likely pathogenic —
RS1064796797 FLNB Health Risk Likely pathogenic —
RS1064796799 NR2F1 Health Risk Pathogenic —
RS1064796800 ZNF469 Health Risk Likely pathogenic —
RS1064796803 STAMBP Health Risk Likely pathogenic —
RS1064796804 AFG3L2 Health Risk Likely pathogenic —
RS1064796806 NONO Health Risk Pathogenic —
RS1064796807 PDHX Health Risk Likely pathogenic Pyruvate dehydrogenase E3-binding protein deficiency, Pyruvate dehydrogenase E3-binding protein deficiency
RS1064796809 BTK Health Risk Likely pathogenic —
RS1064796811 COL4A1 Health Risk Conflicting classifications of pathogenicity Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS1064796813 KMT2C Health Risk Likely pathogenic —
RS1064796814 LOX Health Risk Pathogenic/Likely pathogenic —
RS1064796818 AFF2 Health Risk Pathogenic —
RS1064796819 PQBP1 Health Risk Pathogenic —
RS1064796820 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1064796823 FOXG1 Health Risk Likely pathogenic —
RS1064796824 SCN1A Health Risk Likely pathogenic —
RS1064796827 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS1064796830 PURA Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1064796832 SLC2A10 Health Risk Pathogenic —
RS1064796833 HCFC1 Health Risk Likely pathogenic —
RS1064796835 TCOF1 Health Risk Pathogenic —
RS1064796836 BTK Health Risk Pathogenic —
RS1064796837 MECP2 Health Risk Pathogenic —
RS1064796843 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1064796845 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1064796849 BEST1 Health Risk Conflicting classifications of pathogenicity —
RS1064796851 HIBCH Health Risk Likely pathogenic —
RS1064796853 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1064796854 USP9X Health Risk Pathogenic —
RS1064796855 KMT2D Health Risk Pathogenic —
RS1064796857 NHEJ1 Health Risk Likely pathogenic —
RS1064796858 P3H2 Health Risk Pathogenic/Likely pathogenic —
RS1064796859 RPS7 Health Risk Pathogenic Diamond-Blackfan anemia 8, Diamond-Blackfan anemia 8
RS1064796861 TRIP12 Health Risk Pathogenic —
RS1064796862 KMT2A Health Risk Pathogenic —
RS1064796866 FBN1 Health Risk Likely pathogenic —
RS1064796867 NOTCH1 Health Risk Likely pathogenic —
RS1064796868 PHIP Health Risk Pathogenic/Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1064796872 SHANK3 Health Risk Pathogenic Schizophrenia 15, Phelan-McDermid syndrome
RS1064796877 BRAT1 Health Risk Pathogenic —
RS1064796879 CASK Health Risk Pathogenic CASK-related disorder, CASK-related disorder
RS1064796882 NEXMIF Health Risk Pathogenic —
RS1064796884 CASK Health Risk Likely pathogenic —
RS1064796885 SMARCA4 Health Risk Likely pathogenic —
RS1064796886 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1064796889 MEN1 Health Risk Pathogenic —
RS1064796892 BCKDHB Health Risk Pathogenic —
RS1064796893 EFTUD2 Health Risk Pathogenic —
RS1064796899 RBBP8 Health Risk Conflicting classifications of pathogenicity —
RS1064796901 GABRB2 Health Risk Likely pathogenic —
RS1064796903 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS1064796907 POLR3B Health Risk Likely pathogenic —
RS1064796911 PHIP Health Risk Pathogenic —
RS1064796912 PIEZO1 Health Risk Pathogenic —
RS1064796914 FOXP1 Health Risk Pathogenic —
RS1064796916 UNC80 Health Risk Pathogenic —
RS1064796919 SIN3A Health Risk Pathogenic —
RS1064796922 STAT3 Health Risk Likely pathogenic —
RS1064796923 DYRK1A Health Risk Pathogenic —
RS1064796924 DDX3X Health Risk Likely pathogenic —
RS1064796925 VPS13B Health Risk Pathogenic —
RS1064796926 CHD7 Health Risk Likely pathogenic —
RS1064796927 PHEX Health Risk Pathogenic —
RS1064796928 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1064796929 PHEX Health Risk Likely pathogenic —
RS1064796938 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1064796939 DYRK1A Health Risk Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1064796940 KCNQ2 Health Risk Likely pathogenic —
RS1064796941 NOG Health Risk Likely pathogenic —
RS1064796942 PHEX Health Risk Pathogenic —
RS1064796945 PTCHD1 Health Risk Likely pathogenic —
RS1064796946 NF1 Health Risk Likely pathogenic —
RS1064796948 CREBBP Health Risk Likely pathogenic —
RS1064796950 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1064796954 POU1F1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS1064796955 SLC34A3 Health Risk Likely pathogenic —
RS1064796956 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS1064796960 SALL1 Health Risk Pathogenic —
RS1064796961 CLPB Health Risk Likely pathogenic —
RS1064796964 SCN1A Health Risk Likely pathogenic —
RS1064796970 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1064796972 ASXL3 Health Risk Pathogenic —
RS1064796974 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1064796977 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064796981 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
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