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
RS1573459560 TPO Health Risk Pathogenic Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1573461481 ACTG2 Health Risk Likely pathogenic Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
RS1573461792 PROC Health Risk Likely pathogenic Reduced protein C activity, Reduced protein C activity
RS1573461951 PROC Health Risk Likely pathogenic Reduced protein C activity, Reduced protein C activity
RS1573462001 PROC Health Risk Likely pathogenic Reduced protein C activity, Reduced protein C activity
RS1573462811 ACTG2 Health Risk Likely pathogenic Visceral myopathy 1, Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
RS1573468797 ACTG2 Health Risk Likely pathogenic Visceral myopathy 1, Visceral myopathy 1
RS1573483715 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS1573484275 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1573484336 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1573484655 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573485191 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573493407 NLRC4 Health Risk Likely pathogenic —
RS1573494025 NLRC4 Health Risk Likely pathogenic —
RS1573494931 NLRC4 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS1573495011 NLRC4 Health Risk Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS1573501865 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS1573518300 FANCL Health Risk Likely pathogenic Fanconi anemia complementation group L, Fanconi anemia complementation group L
RS1573519371 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573523409 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia
RS1573547594 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573547745 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573548065 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573553178 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1573553312 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573553370 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573553636 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573554264 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1573560283 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573560572 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573560689 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573561737 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS1573566175 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573566217 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573566411 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573566488 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1573566787 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1573566819 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573567022 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1573567132 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1573567212 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1573567340 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1573567393 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573567451 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573567537 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573567600 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573567630 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573569948 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1573569964 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1573570391 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573570621 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS1573570754 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary breast ovarian cancer syndrome
RS1573573619 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573574024 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1573574086 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573574188 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS1573574436 MSH2 Health Risk Pathogenic Colon cancer, Colon cancer
RS1573574512 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Malignant tumor of breast
RS1573578366 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573578373 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1573578423 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573578439 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1573578511 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1573578666 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573578824 RAB3GAP1 Health Risk Pathogenic —
RS1573579032 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573579171 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1573579206 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573579234 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Carcinoma of colon
RS1573582059 DGUOK Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
RS1573582750 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1573582795 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1573584395 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1573585099 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1573589807 ST3GAL5 Health Risk Likely pathogenic GM3 synthase deficiency, Intellectual disability
RS1573592033 MERTK Health Risk Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1573592124 MERTK Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1573607809 MERTK Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1573613491 MERTK Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 38, MERTK-related disorder
RS1573613529 CXCR4 Health Risk Pathogenic/Likely pathogenic Inherited Immunodeficiency Diseases, WHIM syndrome 1
RS1573623087 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1573627154 MERTK Health Risk Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1573629114 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1573638426 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1573648098 MERTK Health Risk Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1573648653 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Gorlin syndrome
RS1573657614 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1573658295 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1573660204 GLI2 Health Risk Likely pathogenic —
RS1573663867 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1573664291 SMPD4 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, arthrogryposis
RS1573671276 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS1573704236 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Distal myopathy with anterior tibial onset
RS1573707981 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573708153 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573708180 ZEB2 Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS1573713430 ZEB2 Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS1573713477 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1573715510 ZEB2 Health Risk Pathogenic —
RS1573716158 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
« Prev 1 ... 1045 1046 1047 1048 1049 1050 1051 ... 4509 Next »

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

Get Started Free →