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
RS2507910150 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507916875 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507916894 PIEZO1 Health Risk Pathogenic/Likely pathogenic —
RS2507917110 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507917117 PIEZO1 Health Risk Likely pathogenic —
RS2507917271 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507919052 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507921984 DLG4 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507922013 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507926129 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507926253 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507926524 PIEZO1 Health Risk Likely pathogenic PIEZO1-related disorder, PIEZO1-related disorder
RS2507928869 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2507929172 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507929748 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507932362 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507933264 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507933267 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507933288 CTC1 Health Risk Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Cerebroretinal microangiopathy with calcifications and cysts 1
RS2507933457 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507934482 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2507935242 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2507935881 PIEZO1 Health Risk Likely pathogenic —
RS2507936447 FANCI Health Risk Likely pathogenic Fanconi anemia complementation group I, Fanconi anemia complementation group I
RS2507937769 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2507940250 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507940350 TEKT3 Health Risk Pathogenic Spermatogenic failure 81, Spermatogenic failure 81
RS2507940839 DLG4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2507942569 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507942610 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507944348 FOXC2 Health Risk Pathogenic —
RS2507944638 FOXC2 Health Risk Likely pathogenic —
RS2507944810 FOXC2 Health Risk Pathogenic —
RS2507945223 FOXC2 Health Risk Likely pathogenic FOXC2-related disorder, FOXC2-related disorder
RS2507945608 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS2507945700 FOXC2 Health Risk Pathogenic FOXC2-related disorder, FOXC2-related disorder
RS2507945808 FOXC2 Health Risk Likely pathogenic FOXC2-related disorder, FOXC2-related disorder
RS2507945813 FOXC2 Health Risk Likely pathogenic FOXC2-related disorder, FOXC2-related disorder
RS2507946000 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507946061 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507946080 FOXC2 Health Risk Likely pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS2507946309 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Inborn genetic diseases
RS2507946358 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507947636 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2507947953 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507948437 CTC1 Health Risk Likely pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2507959298 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2507960503 PARN Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2507962377 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS2508005637 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2508006285 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2508007696 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2508013671 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2508015311 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2508020967 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2508023271 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2508024645 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2508028388 DLG4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2508034309 DLG4 Health Risk Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2508038550 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2508077437 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease type 1E
RS2508077781 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS2508077811 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2508078064 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS2508083151 DLG4 Health Risk Pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS2508108160 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508108364 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508108464 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508108674 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508109031 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508109484 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508112587 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS2508124364 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508124531 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508124592 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508125103 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508125114 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508125315 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508125390 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508125407 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508125537 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508125654 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508125672 NF1 Health Risk Likely pathogenic Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia
RS2508125881 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508126300 NF1 Health Risk Likely pathogenic —
RS2508126744 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2508130127 KIF1C Health Risk Likely pathogenic Spastic ataxia 2, Spastic ataxia 2
RS2508135079 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2508136381 POLR2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2508137778 TAOK1 Health Risk Pathogenic Developmental delay with or without intellectual impairment or behavioral abnormalities, Developmental delay with or without intellectual impairment or behavioral abnormalities
RS2508139347 POLR2A Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
RS2508140575 NF1 Health Risk Likely pathogenic Neurofibromatosis, familial spinal
RS2508140646 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508140663 NF1 Health Risk Likely pathogenic Juvenile myelomonocytic leukemia, Juvenile myelomonocytic leukemia
RS2508140688 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508140716 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2508140860 NF1 Health Risk Pathogenic NF1-related disorder, NF1-related disorder
RS2508140872 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2508141132 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2508141172 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
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