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
RS1555609402 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555609514 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1555609798 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1555609899 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1555610241 PGAP3 Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS1555610290 FLCN Health Risk Pathogenic/Likely pathogenic —
RS1555610292 PGAP3 Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS1555610590 NXN Health Risk Likely pathogenic Distal shortening of limbs, Robinow syndrome
RS1555610774 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555610848 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555610854 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555610855 GRN Health Risk Pathogenic/Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1555610860 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555610879 NF1 Health Risk Pathogenic —
RS1555610881 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555610884 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555610893 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555610896 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555610898 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555610900 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555610903 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555610905 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555610907 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1555610910 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555610916 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555610955 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555610971 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555610972 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555610984 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555611004 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555611037 NF1 Health Risk Pathogenic —
RS1555611039 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555611043 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555611089 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1555611093 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555611098 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555611105 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS1555611110 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555611111 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555611136 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1555611154 GRN Health Risk Pathogenic/Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1555611253 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1555611256 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS1555611293 GRN Health Risk Pathogenic/Likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1555611377 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS1555611412 GRN Health Risk Pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS1555611438 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS1555611439 GRN Health Risk Pathogenic —
RS1555611494 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome 1
RS1555611570 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1555611581 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555611584 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555611590 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555611610 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555611692 CHD3 Health Risk Conflicting classifications of pathogenicity Snijders Blok-Campeau syndrome, Inborn genetic diseases
RS1555611722 CHD3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS1555612266 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555612270 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555612271 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555612273 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555612274 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555612276 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555612286 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555612288 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555612289 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555612294 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555612691 CHD3 Health Risk Likely pathogenic —
RS1555612815 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555612857 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555612859 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555612866 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555612867 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555613185 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555613190 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555613193 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555613200 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555613206 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555613421 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555613427 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1555613430 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555613541 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555613543 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555613555 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555613558 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555613564 MAPK7 Health Risk Pathogenic Scoliosis, isolated
RS1555613567 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555613598 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555613692 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1555613741 NF1 Health Risk Pathogenic Abnormality of the skin, Hereditary cancer-predisposing syndrome
RS1555613743 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555613773 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1555613784 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555613786 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555613794 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555613795 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1555613801 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1555613810 NF1 Health Risk Pathogenic —
RS1555613811 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1555613816 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1555613821 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
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