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
RS1554552774 FGFR1 Health Risk Pathogenic Pfeiffer syndrome, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1554553667 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS1554554098 ESCO2 Health Risk Pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS1554554265 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1554554267 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554555063 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 6, Joubert syndrome 6
RS1554555716 ESCO2 Health Risk Pathogenic Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS1554555782 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554555808 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1554555835 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554556417 ESCO2 Health Risk Pathogenic —
RS1554556454 NBN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554556485 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554556544 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554556587 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554556608 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1554556880 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1554556892 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1554557554 SLC20A2 Health Risk Pathogenic —
RS1554557920 TMEM67 Health Risk Pathogenic Joubert syndrome 6, Joubert syndrome 6
RS1554558199 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554558251 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1554558270 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554558303 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1554558312 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1554558319 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554558363 TMEM67 Health Risk Pathogenic 6 conditions, 6 conditions
RS1554558365 TMEM67 Health Risk Likely pathogenic Generalized hypotonia, Cerebellar vermis hypoplasia
RS1554558406 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554558423 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554558449 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554558472 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1554558592 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1554558613 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554558620 SYNE1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia, Beauce type
RS1554558784 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS1554558791 POR Health Risk Pathogenic POR-related disorder, POR-related disorder
RS1554559028 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554559038 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554559083 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554559094 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554559152 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554559171 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1554559177 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554559212 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554559285 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS1554559308 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554559323 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554559326 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1554559373 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554559375 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1554560352 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554560432 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554560523 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554560668 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554560735 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554561099 SLC20A2 Health Risk Pathogenic/Likely pathogenic SLC20A2-related disorder, Idiopathic basal ganglia calcification 1
RS1554561128 SLC20A2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554561356 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554562081 FGFR1 Health Risk Pathogenic —
RS1554562083 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554562110 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554562185 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554562278 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1554563822 NBN Health Risk Pathogenic/Likely pathogenic Premature ovarian insufficiency, Microcephaly
RS1554563861 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554563878 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554563912 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1554563955 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554564205 NBN Health Risk Likely pathogenic —
RS1554564297 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554564309 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554564353 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, FGFR1-related disorder
RS1554565484 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554565537 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554565558 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554565645 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554566396 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554566596 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Acute myeloid leukemia
RS1554566602 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1554566610 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554566678 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554567249 ANK1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1554567842 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1554567847 NBN Health Risk Likely pathogenic —
RS1554567892 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554567902 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554567960 NBN Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554567972 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554568029 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554568340 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554568344 NBN Health Risk Likely pathogenic —
RS1554568348 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1554568383 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1554568427 NBN Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Microcephaly
RS1554569106 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS1554569259 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554569655 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS1554569658 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1554569662 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
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