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
RS2545347457 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2545347477 ALPL Health Risk Pathogenic —
RS2545347491 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545347532 ALPL Health Risk Likely pathogenic —
RS2545347584 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Childhood hypophosphatasia
RS2545347691 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2545347747 ALPL Health Risk Pathogenic —
RS2545347818 ALPL Health Risk Likely pathogenic —
RS2545350150 ALPL Health Risk Likely pathogenic —
RS2545350189 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS2545350546 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545350576 ALPL Health Risk Pathogenic —
RS2545350581 ALPL Health Risk Pathogenic Hypophosphatasia, Hypophosphatasia
RS2545351114 ALPL Health Risk Pathogenic —
RS2545351166 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Infantile hypophosphatasia
RS2545351182 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545351407 ALPL Health Risk Pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2545351622 ALPL Health Risk Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS2545351691 ALPL Health Risk Likely pathogenic Adult hypophosphatasia, Adult hypophosphatasia
RS2545351984 ALPL Health Risk Pathogenic Hypophosphatasia, Hypophosphatasia
RS2545358074 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly
RS2545364132 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545369227 ADGRG1 Health Risk Pathogenic —
RS2545371984 ADGRG1 Health Risk Pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS2545375332 CFI Health Risk Pathogenic/Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS2545375580 CFI Health Risk Likely pathogenic —
RS2545376269 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545376376 ABCB11 Health Risk Pathogenic —
RS2545376508 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545376707 ABCB11 Health Risk Pathogenic —
RS2545376741 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545377069 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545377387 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545377389 CFI Health Risk Pathogenic Atypical hemolytic-uremic syndrome with I factor anomaly, Atypical hemolytic-uremic syndrome with I factor anomaly
RS2545377836 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545379327 ABCB11 Health Risk Pathogenic —
RS2545382640 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis
RS2545382762 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545383010 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545383032 ABCB11 Health Risk Pathogenic —
RS2545383308 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545383346 ABCB11 Health Risk Pathogenic —
RS2545383503 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545383573 ABCB11 Health Risk Pathogenic —
RS2545389014 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545389249 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545389271 ABCB11 Health Risk Pathogenic —
RS2545389626 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545389884 ABCB11 Health Risk Likely pathogenic —
RS2545389934 PRMT7 Health Risk Pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS2545394587 ADGRG1 Health Risk Likely pathogenic Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS2545395225 DYSF Health Risk Pathogenic/Likely pathogenic Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1
RS2545395376 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545396000 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545396036 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545396065 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545396702 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545396718 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545397244 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545405264 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545405505 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545406515 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545406592 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545406872 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545407253 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545407375 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545407876 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545409225 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2545413054 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545413144 FOXP1 Health Risk Likely pathogenic —
RS2545414060 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545417186 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS2545417252 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545417489 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545417716 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545417991 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545418010 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545418182 ABCB11 Health Risk Likely pathogenic —
RS2545418342 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2545418573 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545418608 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545418630 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2545418704 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545418887 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545418921 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS2545418937 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS2545419645 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545419678 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545419752 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545420079 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545420133 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545420135 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2545420192 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545420235 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545420239 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2545420289 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545420396 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2545420447 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2545420928 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS2545421165 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
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