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
RS1566628109 LTBP2 Health Risk Pathogenic Microspherophakia, Microspherophakia
RS1566630791 PSEN1 Health Risk Likely pathogenic Alzheimer disease 3, Frontotemporal dementia
RS1566630811 PSEN1 Health Risk Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1566630884 PSEN1 Health Risk Likely pathogenic Frontotemporal dementia, Frontotemporal dementia
RS1566630910 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease, Frontotemporal dementia
RS1566634475 LTBP2 Health Risk Pathogenic Glaucoma 3, primary congenital
RS1566635134 LTBP2 Health Risk Pathogenic Glaucoma 3, primary congenital
RS1566636728 LTBP2 Health Risk Pathogenic Microspherophakia, Microspherophakia
RS1566638673 PSEN1 Health Risk Likely pathogenic Alzheimer disease, Alzheimer disease
RS1566641934 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Alzheimer disease 3
RS1566644018 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1566644166 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1566648219 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1566649375 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2
RS1566650594 PSEN1 Health Risk Pathogenic Alzheimer disease 3, Frontotemporal dementia
RS1566656247 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1566656702 PSEN1 Health Risk Likely pathogenic Alzheimer disease, Alzheimer disease
RS1566657804 PSEN1 Health Risk Likely pathogenic Alzheimer disease, Alzheimer disease
RS1566658823 GCH1 Health Risk Likely pathogenic GTP cyclohydrolase I deficiency, GTP cyclohydrolase I deficiency
RS1566660298 GCH1 Health Risk Likely pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS1566660365 LTBP2 Health Risk Likely pathogenic Glaucoma 3, primary congenital
RS1566674809 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS1566674893 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1566679646 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS1566681333 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1566682530 TGFB3 Health Risk Likely pathogenic Rienhoff syndrome, Rienhoff syndrome
RS1566684983 PPP2R3C Health Risk Pathogenic Gonadal dysgenesis, dysmorphic facies
RS1566687244 GCH1 Health Risk Likely pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS1566687321 GCH1 Health Risk Pathogenic Dystonia 5, GTP cyclohydrolase I deficiency
RS1566687487 GCH1 Health Risk Pathogenic Dystonic disorder, Dystonic disorder
RS1566690018 SDHD Health Risk Pathogenic/Likely pathogenic Pheochromocytoma, Paragangliomas with sensorineural hearing loss
RS1566691921 SDHD Health Risk Likely pathogenic Pheochromocytoma, Cowden syndrome 3
RS1566695035 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Cowden syndrome 3
RS1566696845 VRK1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS1566702512 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Cowden syndrome 3
RS1566702771 SDHD Health Risk Likely pathogenic —
RS1566709754 SMOC1 Health Risk Pathogenic Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
RS1566709825 SMOC1 Health Risk Likely pathogenic Microphthalmia with limb anomalies, Microphthalmia with limb anomalies
RS1566713184 VRK1 Health Risk Pathogenic Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS1566719540 VIPAS39 Health Risk Conflicting classifications of pathogenicity —
RS1566721633 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Neuronopathy
RS1566725003 ATL1 Health Risk Pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1566731055 VIPAS39 Health Risk Likely pathogenic —
RS1566733927 ATL1 Health Risk Likely pathogenic Neuropathy, hereditary sensory
RS1566734 PTPRJ Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Colorectal cancer
RS1566735903 ATL1 Health Risk Likely pathogenic Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS1566740420 IFT43 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 18 with polydactyly, Retinitis pigmentosa 81
RS1566746106 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1566748800 CCNK Health Risk Pathogenic Intellectual developmental disorder with hypertelorism and distinctive facies, Intellectual developmental disorder with hypertelorism and distinctive facies
RS1566749829 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1566750865 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1566753359 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1566753480 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1566754467 SPTB Health Risk Pathogenic Hereditary spherocytosis, Hereditary spherocytosis
RS1566754840 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1566756379 SERPINA1 Health Risk Pathogenic Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS1566762159 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1566764505 MKRN3 Health Risk Likely pathogenic Precocious puberty, central
RS1566765375 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1566766572 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1566766719 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1566766788 DICER1 Health Risk Pathogenic/Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1566767338 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS1566767339 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1566767423 OCA2 Health Risk Likely pathogenic Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism
RS1566767799 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1566767820 DICER1 Health Risk Likely pathogenic —
RS1566768179 DICER1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1566768212 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1566768449 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1566768694 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1566769439 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1566775577 SPTB Health Risk Pathogenic/Likely pathogenic SPTB-related disorder, SPTB-related disorder
RS1566775922 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1566776633 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1566777417 INF2 Health Risk Likely pathogenic —
RS1566777560 INF2 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1566777566 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1566778512 INF2 Health Risk Likely pathogenic —
RS1566778651 INF2 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS1566778676 INF2 Health Risk Pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease
RS1566782962 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS1566783684 MAGEL2 Health Risk Pathogenic —
RS1566783809 FANCM Health Risk Pathogenic/Likely pathogenic Fanconi anemia, FANCM-related disorder
RS1566784441 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1566785444 IRF2BPL Health Risk Pathogenic/Likely pathogenic IRF2BPL-related disorder, IRF2BPL-related disorder
RS1566785990 IRF2BPL Health Risk Likely pathogenic IRF2BPL-related disorder, IRF2BPL-related disorder
RS1566786207 IRF2BPL Health Risk Pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1566786525 IRF2BPL Health Risk Likely pathogenic —
RS1566786613 IRF2BPL Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with regression, abnormal movements
RS1566786923 IRF2BPL Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with regression, abnormal movements
RS1566790465 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1566790572 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1566794698 BCL11B Health Risk Conflicting classifications of pathogenicity —
RS1566797858 OCA2 Health Risk Likely pathogenic Nonsyndromic Oculocutaneous Albinism, Nonsyndromic Oculocutaneous Albinism
RS1566799570 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS15668 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular dysplasia 10
RS1566800987 ADSS1 Health Risk Pathogenic/Likely pathogenic Myopathy, distal
RS1566802002 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1566803555 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Euthyroid goiter
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