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
RS2471497955 BRPF1 Health Risk Likely pathogenic BRPF1-related disorder, BRPF1-related disorder
RS2471500163 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471500241 ARIH2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2471500439 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471500518 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2471500630 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2471500698 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471500915 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471501034 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471501187 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471501529 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471501626 BRPF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2471501994 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471502067 MLH1 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2471502469 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471502728 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS2471502877 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471503046 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471503075 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471503587 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471503616 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471503698 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471504110 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471504399 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471504437 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471504522 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471504543 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471504561 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471504798 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471504849 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471505083 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471505138 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471505398 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471505649 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471505698 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471505837 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2471506555 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471506643 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2471507465 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2471507698 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471507912 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2471507950 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471508293 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2471508751 MLH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2471509283 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471509536 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471509696 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471510851 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471511294 BRPF1 Health Risk Likely pathogenic BRPF1-related disorder, BRPF1-related disorder
RS2471511997 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS2471512475 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471512595 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471512663 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471512698 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471513686 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471514282 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471514640 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS2471515333 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471515346 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471515438 BTD Health Risk Likely pathogenic —
RS2471515479 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471515729 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471516120 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471516565 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471516926 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471517424 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471517581 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471518172 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471518320 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS2471519395 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471519931 BRPF1 Health Risk Pathogenic —
RS2471521697 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471523531 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2471523624 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471526074 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471527080 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471527634 SCN5A Health Risk Pathogenic —
RS2471527913 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471528201 SCN5A Health Risk Likely pathogenic —
RS2471528577 SCN5A Health Risk Pathogenic —
RS2471528697 SCN5A Health Risk Pathogenic —
RS2471528764 P4HTM Health Risk Pathogenic —
RS2471529914 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Brugada syndrome 1
RS2471530254 SCN5A Health Risk Pathogenic —
RS2471531691 SCN5A Health Risk Pathogenic —
RS2471539319 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS2471540906 TRIP12 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2471543681 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS2471544264 SCN5A Health Risk Pathogenic —
RS2471545464 P4HTM Health Risk Likely pathogenic Hypotonia, hypoventilation
RS2471549126 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471552523 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471553789 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471554581 SCN5A Health Risk Pathogenic —
RS2471554597 SCN5A Health Risk Pathogenic —
RS2471558207 SCN5A Health Risk Conflicting classifications of pathogenicity SCN5A-related disorder, SCN5A-related disorder
RS2471558920 SCN5A Health Risk Pathogenic Cardiac arrhythmia, Brugada syndrome
RS2471560599 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS2471560813 CRTAP Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS2471560885 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
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