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
RS2518507983 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518508012 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518508016 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518508058 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency
RS2518508076 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2518511727 SNAP29 Health Risk Likely pathogenic —
RS2518511737 SNAP29 Health Risk Pathogenic —
RS2518513500 PHKA2 Health Risk Pathogenic —
RS2518515412 PHEX Health Risk Likely pathogenic —
RS2518515512 PHEX Health Risk Pathogenic —
RS2518515635 PHEX Health Risk Pathogenic —
RS2518515672 PHEX Health Risk Pathogenic —
RS2518515734 PHEX Health Risk Pathogenic —
RS2518518071 SNAP29 Health Risk Pathogenic —
RS2518520358 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518520486 PHEX Health Risk Pathogenic —
RS2518520664 PHEX Health Risk Pathogenic —
RS2518520815 PHEX Health Risk Pathogenic —
RS2518520860 PHEX Health Risk Pathogenic —
RS2518522174 PCNT Health Risk Pathogenic —
RS2518522193 PCNT Health Risk Pathogenic —
RS2518523051 TANGO2 Health Risk Pathogenic —
RS2518525425 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2518529289 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518529653 PCNT Health Risk Likely pathogenic —
RS2518529916 PCNT Health Risk Pathogenic —
RS2518542445 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS2518543955 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Nonpapillary renal cell carcinoma
RS2518545061 PCNT Health Risk Pathogenic —
RS2518545084 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518545485 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518545794 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518546071 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518546478 ITSN1 Health Risk Likely pathogenic —
RS2518547982 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518548157 PHEX Health Risk Pathogenic —
RS2518548162 PHEX Health Risk Pathogenic —
RS2518548205 PHEX Health Risk Pathogenic —
RS2518548238 PHEX Health Risk Pathogenic —
RS2518551797 PCNT Health Risk Pathogenic —
RS2518556881 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS2518575127 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518575520 EIF2S3 Health Risk Likely pathogenic MEHMO syndrome, MEHMO syndrome
RS2518575579 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518575597 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518585587 CACNA1C Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2518590189 PDK3 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
RS2518592169 HPS4 Health Risk Pathogenic —
RS2518592683 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518592712 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518592983 PHEX Health Risk Likely pathogenic —
RS2518593055 PHEX Health Risk Likely pathogenic —
RS2518593163 PHEX Health Risk Likely pathogenic —
RS2518593223 PHEX Health Risk Pathogenic —
RS2518593316 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518593357 PHEX Health Risk Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2518594021 DEPDC5 Health Risk Pathogenic See cases, See cases
RS2518594478 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518594940 DEPDC5 Health Risk Pathogenic/Likely pathogenic Epilepsy, familial focal
RS2518595115 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS2518595186 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS2518598543 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518600953 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2518603787 TBL1X Health Risk Conflicting classifications of pathogenicity TBL1X-related disorder, Hypothyroidism
RS2518605910 PHEX Health Risk Pathogenic —
RS2518606202 PHEX Health Risk Pathogenic/Likely pathogenic PHEX-related disorder, Thyroid cancer
RS2518606214 PHEX Health Risk Pathogenic —
RS2518607537 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518607552 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518607554 LZTR1 Health Risk Pathogenic/Likely pathogenic LZTR1-related schwannomatosis, Hereditary cancer-predisposing syndrome
RS2518607568 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2518607571 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2518607576 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518607615 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518607641 LZTR1 Health Risk Pathogenic —
RS2518607656 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2518607665 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2518607691 LZTR1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518607763 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2518607818 LZTR1 Health Risk Likely pathogenic Noonan syndrome 2, Noonan syndrome 2
RS2518607819 LZTR1 Health Risk Likely pathogenic Familial multiple meningioma, Familial multiple meningioma
RS2518607851 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2518607905 LZTR1 Health Risk Pathogenic —
RS2518607941 LZTR1 Health Risk Pathogenic —
RS2518607943 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518607997 LZTR1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS2518608027 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518608034 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2518608539 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518608560 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related disorder, Hereditary cancer-predisposing syndrome
RS2518608581 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518608604 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518609787 PCNT Health Risk Pathogenic —
RS2518610578 LZTR1 Health Risk Likely pathogenic LZTR1-related schwannomatosis, LZTR1-related schwannomatosis
RS2518610602 LZTR1 Health Risk Likely pathogenic Noonan syndrome 10, Noonan syndrome 10
RS2518610630 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518610661 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518612397 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2518612414 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2518612494 LZTR1 Health Risk Pathogenic —
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