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
RS1603256095 TBX4 Health Risk Likely pathogenic Pulmonary arterial hypertension, Pulmonary hypertension
RS1603262410 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1603263147 CHM Health Risk Pathogenic/Likely pathogenic Choroideremia, Retinal dystrophy
RS1603263376 F9 Health Risk Pathogenic —
RS1603263395 F9 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease
RS1603263397 F9 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1603263399 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1603263401 F9 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease
RS1603264205 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1603264236 F9 Health Risk Pathogenic —
RS1603264246 F9 Health Risk Pathogenic Reduced factor IX activity, Reduced factor IX activity
RS1603264299 F9 Health Risk Pathogenic —
RS1603264300 F9 Health Risk Pathogenic Abnormality of coagulation, Abnormality of coagulation
RS1603264410 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1603264449 CHM Health Risk Pathogenic Choroideremia, Choroideremia
RS1603264641 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603264659 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603264705 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603264719 F9 Health Risk Pathogenic —
RS1603264727 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1603264731 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603265480 F9 Health Risk Pathogenic —
RS1603265481 F9 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease
RS1603265487 F9 Health Risk Pathogenic —
RS1603265493 F9 Health Risk Pathogenic —
RS1603265500 F9 Health Risk Pathogenic —
RS1603265504 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1603265507 F9 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Thrombophilia
RS1603265760 F9 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1603265779 F9 Health Risk Pathogenic —
RS1603265827 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1603265830 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1603265832 F9 Health Risk Pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1603266754 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS1603267163 F9 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1603267171 F9 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1603267181 F9 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS1603267194 F9 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease
RS1603267332 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1603267344 F9 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1603267362 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Warfarin sensitivity
RS1603267391 F9 Health Risk Pathogenic —
RS1603267393 F9 Health Risk Likely pathogenic Hereditary factor VIII deficiency disease, Thrombophilia
RS1603267398 F9 Health Risk Pathogenic —
RS1603267411 F9 Health Risk Pathogenic —
RS1603267412 F9 Health Risk Pathogenic/Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1603267420 F9 Health Risk Pathogenic —
RS1603267443 F9 Health Risk Pathogenic —
RS1603267474 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
RS1603267486 F9 Health Risk Pathogenic —
RS1603271580 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked scapuloperoneal muscular dystrophy
RS1603271659 FHL1 Health Risk Likely pathogenic Myopathy, reducing body
RS1603272191 FHL1 Health Risk Pathogenic/Likely pathogenic X-linked myopathy with postural muscle atrophy, Familial hemophagocytic lymphohistiocytosis type 1
RS1603272223 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS1603272263 FHL1 Health Risk Pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS1603273609 FHL1 Health Risk Conflicting classifications of pathogenicity X-linked scapuloperoneal muscular dystrophy, X-linked scapuloperoneal muscular dystrophy
RS1603273685 FHL1 Health Risk Likely pathogenic X-linked myopathy with postural muscle atrophy, X-linked myopathy with postural muscle atrophy
RS1603273697 FHL1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 6, Emery-Dreifuss muscular dystrophy 6
RS1603273984 L1CAM Health Risk Pathogenic L1 syndrome, Ovarian serous cystadenocarcinoma
RS1603274308 L1CAM Health Risk Pathogenic —
RS1603274424 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS1603275193 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1603275195 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1603275236 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1603275315 L1CAM Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1603275338 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603275367 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603275438 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1603275538 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS1603275662 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1603275716 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS1603275723 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1603276024 L1CAM Health Risk Pathogenic L1 syndrome, L1 syndrome
RS1603276146 L1CAM Health Risk Conflicting classifications of pathogenicity MASA syndrome, X-linked complicated corpus callosum dysgenesis
RS1603276159 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603276180 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603276234 L1CAM Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1603276502 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1603276520 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1603276698 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603276728 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603276837 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1603277005 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1603277417 L1CAM Health Risk Pathogenic —
RS1603277433 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS1603278993 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603279005 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603279819 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603280507 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1603280511 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603280598 DMD Health Risk Pathogenic —
RS1603280621 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS1603280686 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603280745 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS1603280796 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1603282111 AVPR2 Health Risk Pathogenic —
RS1603282307 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS1603282342 AVPR2 Health Risk Likely pathogenic Diabetes insipidus, nephrogenic
RS1603282474 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS1603283547 COL4A5 Health Risk Pathogenic —
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