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
RS2151582276 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151582291 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151582306 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2151582311 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151582319 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151582390 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151582400 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151582417 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151583226 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151583236 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151583310 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151583407 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151583446 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151583480 NF1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151584780 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151584799 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151584941 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151585015 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151585064 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151585069 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151585074 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151585076 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151585114 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2151585159 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151585265 TSC2 Health Risk Pathogenic —
RS2151585509 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151585510 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2151585983 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151586074 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151586233 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151587004 TSC2 Health Risk Pathogenic —
RS2151587629 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151587645 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151587760 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151588017 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151588861 TSC2 Health Risk Pathogenic —
RS2151590002 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151601322 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151603267 CHD3 Health Risk Likely pathogenic —
RS2151603656 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2151604078 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2151608196 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2151609046 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2151611619 TSC2 Health Risk Pathogenic —
RS2151611996 TSC2 Health Risk Likely pathogenic —
RS2151613782 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151615708 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2151619821 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151620335 TSC2 Health Risk Pathogenic —
RS2151620921 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151621480 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151622456 CHD3 Health Risk Likely pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2151622840 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151625014 ZSWIM7 Health Risk Pathogenic Spermatogenic failure 71, Spermatogenic failure 71
RS2151627168 CHD3 Health Risk Likely pathogenic —
RS2151627285 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2151628196 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151630268 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151631183 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151631825 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS2151632008 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151637431 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151639120 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151641893 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151641918 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151642647 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2151651792 PHKB Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2151652750 IGF1R Health Risk Pathogenic/Likely pathogenic Intellectual disability, Growth delay due to insulin-like growth factor I resistance
RS2151657686 CHD3 Health Risk Pathogenic —
RS2151659413 PAFAH1B1 Health Risk Pathogenic —
RS2151660505 ANKRD11 Health Risk Likely pathogenic —
RS2151660952 PAFAH1B1 Health Risk Pathogenic —
RS2151660977 PAFAH1B1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2151660984 PAFAH1B1 Health Risk Likely pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2151662496 VPS33B Health Risk Likely pathogenic Arthrogryposis, renal dysfunction
RS2151663926 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2151663957 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2151663964 PAFAH1B1 Health Risk Pathogenic —
RS2151664099 PAFAH1B1 Health Risk Likely pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2151664151 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2151665554 CHST6 Health Risk Pathogenic/Likely pathogenic Macular corneal dystrophy, Macular corneal dystrophy
RS2151666355 PAFAH1B1 Health Risk Likely pathogenic —
RS2151666409 PAFAH1B1 Health Risk Pathogenic —
RS2151666445 PAFAH1B1 Health Risk Pathogenic —
RS2151667298 CHD3 Health Risk Pathogenic Snijders Blok-Campeau syndrome, Snijders Blok-Campeau syndrome
RS2151667785 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2151667800 PAFAH1B1 Health Risk Pathogenic —
RS2151667927 PAFAH1B1 Health Risk Pathogenic —
RS2151667999 PAFAH1B1 Health Risk Pathogenic —
RS2151669999 PAFAH1B1 Health Risk Pathogenic —
RS2151672494 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS2151673809 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2151673826 PAFAH1B1 Health Risk Pathogenic —
RS2151673924 PAFAH1B1 Health Risk Likely pathogenic —
RS2151673946 PAFAH1B1 Health Risk Pathogenic/Likely pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2151674034 PAFAH1B1 Health Risk Pathogenic Lissencephaly due to LIS1 mutation, Lissencephaly due to LIS1 mutation
RS2151674130 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS2151674791 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS2151674862 VPS33B Health Risk Likely pathogenic Keratoderma-ichthyosis-deafness syndrome, autosomal recessive
RS2151675590 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
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