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
RS2125985283 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125985473 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125985854 UGT1A1 Health Risk Pathogenic —
RS2125986083 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125986196 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125986279 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2125987009 covers 10 genes, none of which curated to show dosage sensitivity Health Risk Pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1
RS2125987072 covers 10 genes, none of which curated to show dosage sensitivity Health Risk Pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1
RS2125987779 UGT1A1 Health Risk Pathogenic Gilbert syndrome, Gilbert syndrome
RS2125989162 UGT1A1 Health Risk Pathogenic —
RS2125989471 UGT1A1 Health Risk Pathogenic Gilbert syndrome, Crigler-Najjar syndrome type 1
RS2125989728 SCLT1 Health Risk Pathogenic —
RS2125989843 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2125990255 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125990683 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS2125990724 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125991063 COL4A3 Health Risk Pathogenic —
RS2125991131 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS2125991176 COL4A3 Health Risk Likely pathogenic —
RS2125991253 COL4A3 Health Risk Pathogenic —
RS2125991456 COL4A3 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Alport syndrome
RS2125992965 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2125993386 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125993577 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125993656 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2125993690 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2125993840 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2125996462 COL4A3 Health Risk Pathogenic —
RS2125996486 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS2125996501 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Alport syndrome 3b
RS2125996545 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome 3b, autosomal recessive
RS2125996551 COL4A3 Health Risk Pathogenic —
RS2125996582 COL4A3 Health Risk Pathogenic —
RS2125996634 COL4A3 Health Risk Pathogenic —
RS2125997083 SCLT1 Health Risk Pathogenic —
RS2126003617 SCLT1 Health Risk Likely pathogenic —
RS2126010432 AFG2A Health Risk Likely pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS2126027812 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2126028189 FAT4 Health Risk Likely pathogenic —
RS2126029076 FAT4 Health Risk Pathogenic Van Maldergem syndrome 2, Van Maldergem syndrome 2
RS2126030394 covers 10 genes, none of which curated to show dosage sensitivity Health Risk Pathogenic Crigler-Najjar syndrome type 1, Crigler-Najjar syndrome type 1
RS2126030563 UGT1A1 Health Risk Likely pathogenic —
RS2126030587 covers 10 genes, none of which curated to show dosage sensitivity Health Risk Likely pathogenic —
RS2126034894 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS2126036604 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS2126036713 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS2126037181 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS2126038122 UGT1A1 Health Risk Pathogenic Gilbert syndrome, Gilbert syndrome
RS2126038220 UGT1A1 Health Risk Pathogenic/Likely pathogenic Gilbert syndrome, Crigler-Najjar syndrome type 1
RS2126038227 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS2126038249 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS2126048239 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS2126049633 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2126049787 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2126049991 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS2126050077 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS2126053905 CRBN Health Risk Likely pathogenic —
RS2126054153 KIF1A Health Risk Pathogenic Spastic paraplegia, Hereditary spastic paraplegia 30
RS2126054169 KIF1A Health Risk Pathogenic Neuropathy, hereditary sensory
RS2126054501 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Hereditary spastic paraplegia
RS2126062115 CASP10 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS2126062571 KIF1A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2126062641 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2126062809 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2126069168 SCLT1 Health Risk Likely pathogenic —
RS2126069389 CRBN Health Risk Likely pathogenic See cases, See cases
RS2126069391 SCLT1 Health Risk Likely pathogenic —
RS2126071436 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2126071766 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS2126071880 KIF1A Health Risk Likely pathogenic —
RS2126083898 FAT4 Health Risk Likely pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS2126091776 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2126091792 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS2126147743 KIF1A Health Risk Pathogenic Hereditary spastic paraplegia 30, Hereditary spastic paraplegia 30
RS2126175345 COQ2 Health Risk Likely pathogenic —
RS2126175406 COQ2 Health Risk Pathogenic —
RS2126177139 COQ2 Health Risk Likely pathogenic Coenzyme Q10 deficiency, primary
RS2126178088 CFI Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency
RS2126187981 CYP2U1 Health Risk Pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS2126190954 CFI Health Risk Pathogenic —
RS2126199263 CYP2U1 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2126199411 CYP2U1 Health Risk Pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS2126199530 CYP2U1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2126202736 CYP2U1 Health Risk Pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS2126213962 CFI Health Risk Conflicting classifications of pathogenicity Factor I deficiency, CFI-related disorder
RS2126214430 CFI Health Risk Pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly, Factor I deficiency
RS2126214475 CFI Health Risk Pathogenic —
RS2126224367 CFI Health Risk Pathogenic —
RS2126224371 CFI Health Risk Pathogenic Factor I deficiency, Factor I deficiency
RS2126234459 HADH Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS2126234552 HADH Health Risk Likely pathogenic Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Deficiency of 3-hydroxyacyl-CoA dehydrogenase
RS2126274969 LEF1 Health Risk Pathogenic Ectrodactyly, Ectodermal dysplasia 17 with or without limb malformations
RS2126309189 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2126309523 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2126314844 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2C
RS2126314946 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2126315337 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2126315444 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2126316172 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS2126316486 ETFDH Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
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