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
RS2547516324 BRCA1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547516340 ATM Health Risk Pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2547516435 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547516848 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547516982 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Neoplasm
RS2547517100 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2547517261 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2547517983 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2547518155 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547518364 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547518643 ANO6 Health Risk Likely pathogenic —
RS2547519694 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2547519976 SLC25A46 Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary motor and sensory
RS2547520486 TPK1 Health Risk Pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS2547522906 SLC25A46 Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS2547523202 ANO6 Health Risk Pathogenic —
RS2547525655 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2547526348 CPLANE1 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2547528702 SLC25A46 Health Risk Pathogenic Neuropathy, hereditary motor and sensory
RS2547531853 SECISBP2 Health Risk Pathogenic Thyroid hormone metabolism, abnormal 1
RS2547533578 SLC25A46 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2547534973 ATM Health Risk Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2547536776 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2547537125 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2547539500 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547539694 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547541005 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547541937 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547542207 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547542223 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547542768 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547543720 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547543832 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547550958 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547551142 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547551611 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547560732 MYBPC1 Health Risk Likely pathogenic Arthrogryposis, distal
RS2547563651 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS2547563737 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2547563850 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547564061 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2547564126 EPB41 Health Risk Likely pathogenic Elliptocytosis 1, Elliptocytosis 1
RS2547564954 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547565028 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547565429 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547565798 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2547566672 ATP7B Health Risk Likely pathogenic —
RS2547567636 CPLANE1 Health Risk Pathogenic —
RS2547567835 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547568707 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547568904 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547569054 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547569101 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547569168 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547569268 ATP7B Health Risk Likely pathogenic —
RS2547569603 CPLANE1 Health Risk Likely pathogenic CPLANE1-related disorder, CPLANE1-related disorder
RS2547569906 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547577653 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2547577746 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2547580013 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 17, Joubert syndrome 17
RS2547580119 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS2547580186 CPLANE1 Health Risk Pathogenic —
RS2547581855 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2547581917 IQCB1 Health Risk Likely pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS2547582149 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2547582262 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2547582919 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547583270 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547583314 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547584343 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547584635 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547596894 THSD1 Health Risk Pathogenic/Likely pathogenic —
RS2547596958 THSD1 Health Risk Likely pathogenic Lymphatic malformation 13, Lymphatic malformation 13
RS2547597183 THSD1 Health Risk Pathogenic Lymphatic malformation 13, Lymphatic malformation 13
RS2547597830 IQCB1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2547597991 MTRFR Health Risk Pathogenic Spastic paraplegia, Combined oxidative phosphorylation defect type 7
RS2547598455 MYL4 Health Risk Likely pathogenic Atrial fibrillation, familial
RS2547599435 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547599465 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547599575 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547599712 LACC1 Health Risk Pathogenic —
RS2547599807 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547600190 MTRFR Health Risk Likely pathogenic —
RS2547600304 MTRFR Health Risk Likely pathogenic MTRFR-related disorder, MTRFR-related disorder
RS2547600455 MYL4 Health Risk Pathogenic Atrial fibrillation, familial
RS2547600885 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547601130 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547601624 ARID2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2547604512 THSD1 Health Risk Pathogenic Lymphatic malformation 13, Lymphatic malformation 13
RS2547607765 ITGB3 Health Risk Pathogenic —
RS2547611249 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547611792 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547611839 ATP7B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Wilson disease
RS2547611952 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547612738 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547612821 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS2547613010 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2547613029 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547613268 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS2547613379 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
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