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
RS2062339211 SCN5A Health Risk Pathogenic —
RS2062351829 FAN1 Health Risk Likely pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS2062365477 ADA2 Health Risk Likely pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2062392148 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2062393838 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2062397306 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2062410421 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2062410722 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2062412197 WAS Health Risk Likely pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2062412365 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2062412730 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS2062412810 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS2062416187 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2062416272 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS2062416328 WAS Health Risk Pathogenic —
RS2062417344 WAS Health Risk Pathogenic/Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2062417558 WAS Health Risk Pathogenic Thrombocytopenia 1, Wiskott-Aldrich syndrome
RS2062418811 WAS Health Risk Likely pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2062419468 USP9X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2062422078 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2062426981 WAS Health Risk Likely pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2062429013 WAS Health Risk Pathogenic X-linked severe congenital neutropenia, Thrombocytopenia 1
RS2062432605 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2062432653 WAS Health Risk Pathogenic Wiskott-Aldrich syndrome, Wiskott-Aldrich syndrome
RS2062434410 CTNND1 Health Risk Likely pathogenic Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
RS2062455934 GDF5 Health Risk Pathogenic —
RS2062463484 GDF5 Health Risk Pathogenic —
RS2062480958 GDF5 Health Risk Pathogenic —
RS2062564269 SCN5A Health Risk Pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS2062565976 SCN5A Health Risk Pathogenic —
RS2062566338 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS2062566545 SCN5A Health Risk Pathogenic —
RS2062567690 SCN5A Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2062606991 ACBD5 Health Risk Likely pathogenic Retinal dystrophy with leukodystrophy, Retinal dystrophy with leukodystrophy
RS2062611307 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS2062620327 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2062621871 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2062662018 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2062673272 GATA1 Health Risk Pathogenic Transient myeloproliferative syndrome, Transient myeloproliferative syndrome
RS2062673416 GATA1 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2062673523 GATA1 Health Risk Pathogenic Diamond-Blackfan anemia, GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
RS2062673530 GATA1 Health Risk Pathogenic Transient myeloproliferative syndrome, Transient myeloproliferative syndrome
RS2062673787 GATA1 Health Risk Pathogenic GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, Diamond-Blackfan anemia
RS2062673859 GATA1 Health Risk Pathogenic Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
RS2062673949 GATA1 Health Risk Pathogenic Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
RS2062674043 GATA1 Health Risk Pathogenic Transient myeloproliferative syndrome, Transient myeloproliferative syndrome
RS2062674122 GATA1 Health Risk Pathogenic Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
RS2062674253 GATA1 Health Risk Pathogenic Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
RS2062674480 GATA1 Health Risk Pathogenic Acute megakaryoblastic leukemia in down syndrome, Acute megakaryoblastic leukemia in down syndrome
RS2062674491 GATA1 Health Risk Pathogenic Transient myeloproliferative syndrome, Transient myeloproliferative syndrome
RS2062675453 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2062676091 USP9X Health Risk Pathogenic —
RS2062693263 FITM2 Health Risk Likely pathogenic —
RS2062763812 ATRX Health Risk Pathogenic —
RS2062777274 NRCAM Health Risk Pathogenic NRCAM-related disorder, Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
RS2062783271 PTHLH Health Risk Pathogenic —
RS2062862935 CEP250 Health Risk Pathogenic —
RS2062912705 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2062921303 PDHB Health Risk Pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS2062941991 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2062944024 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2062949363 CTNND1 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS2062964886 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS2062986710 USP9X Health Risk Pathogenic —
RS2062994512 USP9X Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2063008265 MOV10L1 Health Risk Likely pathogenic Male infertility, Male infertility
RS2063018968 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2063052002 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS2063072465 CTNND1 Health Risk Pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS2063076388 NEFH Health Risk Pathogenic —
RS2063076425 NEFH Health Risk Likely pathogenic —
RS2063099465 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2063100815 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS2063102803 MAX Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2063103516 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2063103741 COL4A4 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2063104349 MAX Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2063104408 MAX Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2063106020 MAX Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, MAX-associated Macrocephaly and Polydactyly syndrome
RS2063135938 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2063155917 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2063162114 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Thyroid cancer
RS2063174067 PDHA1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Neurodevelopmental delay
RS2063188850 PDHA1 Health Risk Likely pathogenic —
RS2063189233 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2063189611 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2063192428 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2063192913 PDHA1 Health Risk Pathogenic —
RS2063210388 USP9X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2063213272 PDHA1 Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2063213305 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2063213396 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2063213491 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Nonpapillary renal cell carcinoma
RS2063220564 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS2063220897 GSN Health Risk Conflicting classifications of pathogenicity Finnish type amyloidosis, Finnish type amyloidosis
RS2063221553 USP9X Health Risk Likely pathogenic —
RS2063232292 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2063232730 PDHA1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2063232824 PDHA1 Health Risk Pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS2063233462 PDHA1 Health Risk Likely pathogenic Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
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