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
RS2470160593 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470165070 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS2470165203 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2470165240 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470165274 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470165396 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470165746 ITPR1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 15/16
RS2470165771 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2470170430 ATP2B2 Health Risk Pathogenic —
RS2470170621 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470170739 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2470170764 VHL Health Risk Pathogenic Chuvash polycythemia, Von Hippel-Lindau syndrome
RS2470170948 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS2470170952 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470171093 MBD5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 1
RS2470171129 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS2470171278 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS2470171303 VHL Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS2470171346 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Von Hippel-Lindau syndrome
RS2470171381 VHL Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2470174791 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470175213 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2470175931 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470179437 TMEM43 Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 7, autosomal dominant
RS2470181227 ITPR1 Health Risk Conflicting classifications of pathogenicity Gillespie syndrome, Gillespie syndrome
RS2470186445 GRM7 Health Risk Pathogenic Neurodevelopmental disorder with seizures, hypotonia
RS2470189052 SLC6A1 Health Risk Likely pathogenic —
RS2470191807 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470191935 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470192158 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470192319 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470192385 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470193069 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470194710 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2470194778 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470196296 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470201771 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470201816 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470201839 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470202191 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470202207 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470202787 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2470202904 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470203267 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470203335 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470203450 SLC6A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2470203986 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470210229 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470210780 SLC6A1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2470210792 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470210847 SLC6A1 Health Risk Likely pathogenic SLC6A1-related disorder, SLC6A1-related disorder
RS2470212537 ATP2B2 Health Risk Likely pathogenic —
RS2470219549 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470219605 XPC Health Risk Pathogenic —
RS2470222374 XPC Health Risk Likely pathogenic —
RS2470222392 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470222524 XPC Health Risk Pathogenic —
RS2470222589 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470222613 XPC Health Risk Pathogenic —
RS2470222670 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470222783 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470222791 XPC Health Risk Likely pathogenic —
RS2470222842 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470222942 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470223501 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470223574 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470223633 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470223719 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470224446 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470224452 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470224623 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470225112 XPC Health Risk Likely pathogenic —
RS2470225400 XPC Health Risk Pathogenic —
RS2470225440 XPC Health Risk Pathogenic —
RS2470225927 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470226337 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226358 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226391 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226435 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226496 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226536 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226647 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226691 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226845 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226900 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226909 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470226967 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470227119 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS2470227142 XPC Health Risk Pathogenic —
RS2470227355 XPC Health Risk Pathogenic Xeroderma pigmentosum, group C
RS2470227377 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470227436 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470227581 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470227583 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS2470227625 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470227698 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470228303 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS2470228964 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470228996 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2470229009 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
« Prev 1 ... 2023 2024 2025 2026 2027 2028 2029 ... 4509 Next »

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

Get Started Free →