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
RS199474738 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199474739 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474740 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS199474741 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474742 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474743 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474745 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474746 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474747 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474748 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474749 NF1 Health Risk Pathogenic/Likely pathogenic NF1-related disorder, Neurofibromatosis
RS199474750 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474751 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS199474752 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474753 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474754 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474755 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199474756 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS199474757 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS199474758 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474760 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474761 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS199474762 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199474763 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS199474764 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS199474765 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199474766 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199474767 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS199474773 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474774 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474777 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS199474778 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS199474780 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS199474781 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474785 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199474786 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199474789 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis-Noonan syndrome, Neurofibromatosis
RS199474790 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS199474791 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199474792 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS199474793 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS199474800 TNNI2 Health Risk Pathogenic Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS199474801 TNNI2 Health Risk Pathogenic/Likely pathogenic Distal arthrogryposis type 2B1, TNNI2-related disorder
RS199474808 MYL2 Health Risk Conflicting classifications of pathogenicity Premature ventricular contraction, Primary familial hypertrophic cardiomyopathy
RS199474813 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Myopathy
RS199474815 MYL2 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy 10, Cardiovascular phenotype
RS199474817 MT-TS1 Health Risk Likely pathogenic MERRF/MELAS overlap syndrome, Mitochondrial cytochrome c oxidase deficiency
RS199474818 MT-CO1;MT-TS1 Health Risk Pathogenic Palmoplantar keratoderma-deafness syndrome, Mitochondrial non-syndromic sensorineural hearing loss
RS199474820 MT-TS1 Health Risk Likely pathogenic Mitochondrial non-syndromic sensorineural hearing loss, Mitochondrial disease
RS199474821 MT-TS1 Health Risk Likely pathogenic Mitochondrial non-syndromic sensorineural hearing loss, MELAS syndrome
RS199474823 MT-RNR2 Health Risk Pathogenic Chloramphenicol resistance, Chloramphenicol resistance
RS199474824 MT-RNR2 Health Risk Pathogenic Chloramphenicol resistance, Chloramphenicol resistance
RS199474825 MT-CO2 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS199474829 MT-CO2 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS199474830 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS199474831 CTSC Health Risk Pathogenic/Likely pathogenic Haim-Munk syndrome, Periodontitis
RS199475565 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475566 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475567 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475572 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475573 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475575 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475577 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475578 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475579 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475581 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475582 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475583 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475584 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475585 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475586 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475587 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475588 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475589 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475590 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475591 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475592 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475593 PAH Health Risk Conflicting classifications of pathogenicity Phenylketonuria, Phenylketonuria
RS199475595 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475596 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475597 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475598 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Hyperphenylalaninemia
RS199475600 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475602 PAH Health Risk Pathogenic Phenylketonuria, Hyperphenylalaninemia
RS199475603 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475604 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475605 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475606 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475607 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475608 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475609 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475610 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475611 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475613 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475614 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475615 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475616 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475617 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS199475618 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS199475619 PAH Health Risk Likely pathogenic Phenylketonuria, PAH-related disorder
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