SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS869320760 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS869320761 VPS13C Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 23, Autosomal recessive early-onset Parkinson disease 23
RS869320762 DDX41 Health Risk Pathogenic/Likely pathogenic DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS869320763 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS869320764 POGZ Health Risk Pathogenic/Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Neurodevelopmental disorder
RS869320765 STAG3 Health Risk Pathogenic Premature ovarian failure 8, Premature ovarian failure 8
RS869320767 RELN Health Risk Pathogenic Norman-Roberts syndrome, Norman-Roberts syndrome
RS869320769 TBCK Health Risk Pathogenic Hypotonia, infantile
RS869320770 GATA2 Health Risk Pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS869320772 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS869320773 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS869320776 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320780 BRCA1 Health Risk Likely pathogenic Breast-ovarian cancer, familial
RS869320781 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320782 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320783 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320785 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS869320786 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320787 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS869320791 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS869320793 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320794 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320795 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS869320796 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS869320797 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320798 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320799 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320800 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869320801 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS869320802 CTBP1 Health Risk Pathogenic Hypotonia, ataxia
RS874881 PADI4 Health Risk Benign; association Rheumatoid arthritis, Abnormal pulmonary interstitial morphology
RS875989777 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS875989778 RAB28 Health Risk Pathogenic Cone-rod dystrophy 18, Cone-rod dystrophy 18
RS875989779 DICER1 Health Risk Pathogenic Pineoblastoma, DICER1-related tumor predisposition
RS875989780 DICER1 Health Risk Pathogenic Pineoblastoma, DICER1-related tumor predisposition
RS875989781 DICER1 Health Risk Pathogenic/Likely pathogenic Pineoblastoma, DICER1-related tumor predisposition
RS875989782 DICER1 Health Risk Pathogenic Pineoblastoma, DICER1-related tumor predisposition
RS875989783 DICER1 Health Risk Likely pathogenic Pineoblastoma, Hereditary cancer-predisposing syndrome
RS875989784 DICER1 Health Risk Pathogenic Pineoblastoma, DICER1-related tumor predisposition
RS875989785 ZBTB18 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS875989786 ZBTB18 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS875989787 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS875989788 GPR88 Health Risk Pathogenic Chorea, childhood-onset
RS875989789 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS875989790 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS875989791 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS875989792 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS875989799 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS875989800 SMARCB1 Health Risk Pathogenic Intellectual disability, autosomal dominant 15
RS875989801 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS875989802 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS875989803 DDX3X Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 102
RS875989805 NHS Health Risk Likely pathogenic Nance-Horan syndrome, NHS-related disorder
RS875989807 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS875989808 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS875989810 ERCC6 Health Risk Pathogenic Premature ovarian failure 11, Cerebrooculofacioskeletal syndrome 1
RS875989814 POLR1A Health Risk Pathogenic Acrofacial dysostosis Cincinnati type, Acrofacial dysostosis Cincinnati type
RS875989816 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS875989817 TGFB3 Health Risk Pathogenic Rienhoff syndrome, Rienhoff syndrome
RS875989819 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS875989821 ZNF408 Health Risk Pathogenic Retinitis pigmentosa 72, Retinitis pigmentosa 72
RS875989822 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS875989823 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS875989824 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS875989825 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS875989826 POLR1C Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS875989827 COA6 Health Risk Pathogenic Cardioencephalomyopathy, fatal infantile
RS875989828 RIPOR2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 104, Autosomal recessive nonsyndromic hearing loss 104
RS875989829 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS875989830 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS875989831 TRMT10C Health Risk Pathogenic Combined oxidative phosphorylation defect type 30, Mitochondrial disease
RS875989832 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS875989833 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS875989834 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS875989835 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS875989836 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS875989837 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS875989838 P3H2 Health Risk Likely pathogenic Myopia, high
RS875989839 PDE10A Health Risk Pathogenic Infantile-onset generalized dyskinesia with orofacial involvement, Infantile-onset generalized dyskinesia with orofacial involvement
RS875989840 PDE10A Health Risk Pathogenic Striatal degeneration, autosomal dominant 2
RS875989841 PDE10A Health Risk Pathogenic Striatal degeneration, autosomal dominant 2
RS875989842 HOXD13 Health Risk Pathogenic Brachydactyly-syndactyly-oligodactyly syndrome, Brachydactyly-syndactyly-oligodactyly syndrome
RS875989843 SMOC2 Health Risk Pathogenic Dentin dysplasia type I, Dentin dysplasia type I
RS875989844 AMPD2 Health Risk Pathogenic Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9
RS875989845 CAPN1 Health Risk Pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS875989846 GTF2E2 Health Risk Pathogenic Trichothiodystrophy 6, nonphotosensitive
RS875989847 GTF2E2 Health Risk Pathogenic Trichothiodystrophy 6, nonphotosensitive
RS875989848 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS875989849 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS875989850 GMPPB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2T, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS875989851 GMPPB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2T, Abnormality of the musculature
RS875989852 MAGED2 Health Risk Pathogenic Bartter disease type 5, Bartter disease type 5
RS875989854 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989857 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989859 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989860 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989861 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Ovarian serous cystadenocarcinoma
RS875989863 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989864 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS875989865 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
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