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
RS2151544901 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2151544918 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151545014 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2151545035 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151545272 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151549200 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2151549469 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151549770 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2151549840 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2151550125 PKHD1 Health Risk Pathogenic Polycystic kidney disease, Hypoplastic aortic arch
RS2151550210 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151550241 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151550259 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151550270 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151550327 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151550384 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151550494 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151550502 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151550507 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151550685 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151550700 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151550703 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151550708 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151550785 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151551059 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151551135 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2151551960 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151553190 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151553250 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151553285 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151553286 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151553312 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151553456 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151553540 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151553635 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151554076 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151554391 NF1 Health Risk Pathogenic Neurofibromatosis, Neurofibromatosis
RS2151554438 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151554452 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151554507 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151554602 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151554607 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151554842 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151554894 NF1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151554927 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151554936 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151554939 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2151555120 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151555200 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151555210 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151555896 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151555987 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556054 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556088 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2151556101 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556124 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151556143 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556162 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556165 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556220 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2151556280 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151556290 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151556401 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556446 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556452 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556490 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556491 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556510 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556540 NF1 Health Risk Pathogenic Gastric cancer, Neurofibromatosis
RS2151556621 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556776 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151556799 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2151557324 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151557367 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151557372 NF1 Health Risk Pathogenic —
RS2151557411 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151557496 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151557502 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151557558 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151558070 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151558071 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151558108 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151558122 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151558160 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151558358 PRMT7 Health Risk Likely pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS2151559073 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151559183 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151559206 PRMT7 Health Risk Likely pathogenic —
RS2151559216 NF1 Health Risk Pathogenic Neurofibroma, Neurofibromatosis
RS2151559233 NF1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151559288 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151559296 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151559362 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151559369 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151559384 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151561113 CHD3 Health Risk Likely pathogenic —
RS2151561390 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151561453 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151561461 NF1 Health Risk Pathogenic —
RS2151561465 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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