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
RS2069790642 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069791742 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069792041 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069792220 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069792273 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069792818 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069793099 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069794139 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069795265 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069795315 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069795581 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069827755 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2069829602 ZEB1 Health Risk Likely pathogenic Corneal dystrophy, Fuchs endothelial
RS2069865899 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069867116 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069867387 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069867490 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2069867622 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069867738 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069868519 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069868919 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069869918 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069870034 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2069870374 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2069899081 COL4A3 Health Risk Likely pathogenic Benign familial hematuria, Benign familial hematuria
RS2069900248 COL4A3 Health Risk Conflicting classifications of pathogenicity Benign familial hematuria, Autosomal dominant Alport syndrome
RS2069901772 LPL Health Risk Pathogenic —
RS2069903710 COL4A3 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS2069915167 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2069923072 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2069929443 COL4A3 Health Risk Pathogenic/Likely pathogenic Alport syndrome 3b, autosomal recessive
RS2069936 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS2069936535 LPL Health Risk Pathogenic —
RS2069945390 CHRNB1 Health Risk Pathogenic Congenital myasthenic syndrome 2C, Congenital myasthenic syndrome 2A
RS2069961546 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS2069962309 LPL Health Risk Pathogenic —
RS2069980707 LPL Health Risk Likely pathogenic —
RS2069981391 LPL Health Risk Pathogenic —
RS2069982771 LPL Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type I
RS2069985189 COL4A3 Health Risk Likely pathogenic —
RS2069988351 COL4A3 Health Risk Likely pathogenic —
RS2069991819 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS2069999514 TPK1 Health Risk Pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS2070011218 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS2070018439 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS2070032216 LPL Health Risk Likely pathogenic Hyperlipoproteinemia, type I
RS2070033114 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipidemia, familial combined
RS2070033559 LPL Health Risk Pathogenic —
RS2070034528 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2070035662 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Hematuria
RS2070037318 ATRX Health Risk Pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2070047352 ATRX Health Risk Pathogenic —
RS2070072539 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2070072794 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2070073417 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2070073649 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070074 GALT Health Risk Conflicting classifications of pathogenicity; other GALT POLYMORPHISM (DUARTE, D2)
RS2070074227 NF1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2070074350 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070074822 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070075185 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070075234 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2070075481 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070076040 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070076088 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070076467 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070076529 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070076932 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2070077052 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070077277 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070077334 NF1 Health Risk Pathogenic —
RS2070077385 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2070077732 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070078716 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070078996 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070079311 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2070080 FH Health Risk Likely pathogenic —
RS2070094 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2070102904 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2070105179 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070107315 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070108683 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070108811 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070109067 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2070109145 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070145822 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2070161874 PCK1 Health Risk Pathogenic Phosphoenolpyruvate carboxykinase deficiency, cytosolic
RS2070166483 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070167232 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2070169785 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070170042 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070170274 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2070170648 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070171459 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070171679 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070172428 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070172476 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070172706 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2070173038 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2070197 IRF5 Health Risk risk factor SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO
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