SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS863224735 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863224738 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863224741 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863224747 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS863224748 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS863224749 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS863224752 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS863224753 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS863224754 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS863224756 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS863224758 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS863224759 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast cancer
RS863224760 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS863224763 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS863224764 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS863224765 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS863224766 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS863224769 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS863224772 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS863224774 GDAP1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS863224778 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS863224780 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Distal spinal muscular atrophy
RS863224781 SH3TC2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS863224782 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS863224783 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS863224786 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS863224787 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS863224788 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS863224789 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS863224792 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS863224800 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS863224801 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS863224802 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS863224804 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS863224806 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS863224807 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS863224809 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS863224810 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS863224817 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS863224820 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS863224822 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS863224824 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS863224825 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS863224827 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS863224828 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS863224829 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS863224833 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863224835 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS863224837 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS863224838 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS863224839 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS863224842 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS863224843 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS863224844 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency
RS863224845 ACAD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Acyl-CoA dehydrogenase 9 deficiency
RS863224846 ACVR1 Health Risk Likely pathogenic Progressive myositis ossificans, Progressive myositis ossificans
RS863224847 ATP1A3 Health Risk Pathogenic/Likely pathogenic Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome, Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
RS863224850 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS863224851 BRWD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 93
RS863224852 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Spinocerebellar ataxia type 6
RS863224853 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS863224854 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS863224855 CERKL Health Risk Conflicting classifications of pathogenicity —
RS863224856 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS863224857 CHD8 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS863224858 CLCNKB Health Risk Pathogenic/Likely pathogenic Bartter disease type 3, Bartter disease type 4B
RS863224860 COL3A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, type 4
RS863224861 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS863224862 CRB1 Health Risk Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS863224863 CRX Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 7, Retinal dystrophy
RS863224864 CTNNB1 Health Risk Likely pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS863224865 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS863224868 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS863224869 ETFDH Health Risk Pathogenic/Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS863224870 FA2H Health Risk Likely pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS863224871 FADD Health Risk Pathogenic FADD-related immunodeficiency, FADD-related immunodeficiency
RS863224872 FGF23 Health Risk Likely pathogenic Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome, Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
RS863224873 GARS1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2D, Neuronopathy
RS863224874 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Deafness-lymphedema-leukemia syndrome
RS863224876 GNAS Health Risk Pathogenic/Likely pathogenic Pseudohypoparathyroidism, Pseudohypoparathyroidism type 1C
RS863224877 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Nonpapillary renal cell carcinoma
RS863224878 HSPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 13, Spastic paraplegia
RS863224879 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS863224880 IGHMBP2 Health Risk Pathogenic 7 conditions, Autosomal recessive distal spinal muscular atrophy 1
RS863224881 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS863224882 ITPR1 Health Risk Likely pathogenic Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 29
RS863224883 KAT6B Health Risk Pathogenic/Likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS863224884 KCNJ13 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 16, Leber congenital amaurosis
RS863224885 KCNMA1 Health Risk Likely pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS863224886 KDM6A Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 2, Medulloblastoma WNT activated
RS863224887 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS863224888 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS863224889 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS863224890 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS863224891 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS863224892 LIPT1 Health Risk Likely pathogenic Lipoyl transferase 1 deficiency, Lipoyl transferase 1 deficiency
RS863224894 MERTK Health Risk Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS863224895 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS863224897 MTFMT Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15
RS863224898 MMUT Health Risk Pathogenic —
« Prev 1 ... 3828 3829 3830 3831 3832 3833 3834 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →