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
RS2101224520 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2101225889 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS2101248147 HMGCS2 Health Risk Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS2101254797 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS2101262353 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS2101273359 HMGCS2 Health Risk Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS2101282041 COL11A1 Health Risk Likely pathogenic COL11A1-related disorder, COL11A1-related disorder
RS2101283564 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS2101283660 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS2101305801 COL11A1 Health Risk Pathogenic —
RS2101343665 HSD3B2 Health Risk Pathogenic —
RS2101349412 HSD3B2 Health Risk Pathogenic —
RS2101349426 HSD3B2 Health Risk Likely pathogenic Hypospadias 1, X-linked
RS2101349982 HSD3B2 Health Risk Pathogenic —
RS2101350040 HSD3B2 Health Risk Pathogenic —
RS2101350289 HSD3B2 Health Risk Pathogenic/Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS2101350432 HSD3B2 Health Risk Pathogenic —
RS2101350566 HSD3B2 Health Risk Pathogenic —
RS2101350819 HSD3B2 Health Risk Pathogenic —
RS2101370069 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2101385559 C8B Health Risk Pathogenic —
RS2101396301 KCNA2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 32
RS2101396443 KCNA2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32
RS2101396495 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS2101396713 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2101397006 KCNA2 Health Risk Likely pathogenic —
RS2101398407 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS2101398595 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2101398625 KCNA2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2101399429 KCNA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 32
RS2101399466 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS2101403658 KCNA2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 32
RS2101406246 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Stickler syndrome type 2
RS2101406339 COL11A1 Health Risk Likely pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS2101408848 C8B Health Risk Pathogenic —
RS2101422164 TBX15 Health Risk Pathogenic Pelviscapular dysplasia, Pelviscapular dysplasia
RS2101422204 TBX15 Health Risk Pathogenic Pelviscapular dysplasia, Pelviscapular dysplasia
RS2101429459 GPSM2 Health Risk Likely pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS2101440055 ECM1 Health Risk Pathogenic Lipid proteinosis, Lipid proteinosis
RS2101440353 ECM1 Health Risk Pathogenic Lipid proteinosis, Lipid proteinosis
RS2101487641 C8B Health Risk Likely pathogenic —
RS2101501082 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2101513438 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS2101513489 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma
RS2101513511 SDHB Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS2101513669 SDHB Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS2101513801 SDHB Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Gastrointestinal stromal tumor
RS2101516291 SDHB Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS2101516417 SDHB Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS2101516424 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS2101516484 SDHB Health Risk Likely pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS2101516550 SDHB Health Risk Likely pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS2101521715 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS2101521720 SDHB Health Risk Likely pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2101521760 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS2101521812 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
RS2101521836 SDHB Health Risk Pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS2101521922 SDHB Health Risk Pathogenic/Likely pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS2101521941 SDHB Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma
RS2101522958 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS2101522991 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS2101523059 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2101523108 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma
RS2101523248 SDHB Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS2101528079 GPSM2 Health Risk Likely pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS2101528919 SDHB Health Risk Likely pathogenic Pheochromocytoma, Gastrointestinal stromal tumor
RS2101528951 SDHB Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS2101528972 SDHB Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS2101529108 SDHB Health Risk Pathogenic/Likely pathogenic Paraganglioma, Gastrointestinal stromal tumor
RS2101529119 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Gastrointestinal stromal tumor
RS2101529138 SDHB Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
RS2101541309 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS2101541632 SDHB Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS2101542489 GPSM2 Health Risk Likely pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS2101551748 SDHB Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS2101551846 SDHB Health Risk Pathogenic Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4
RS2101551903 SDHB Health Risk Pathogenic Gastrointestinal stromal tumor, Pheochromocytoma
RS2101555526 DHCR24 Health Risk Conflicting classifications of pathogenicity Non-immune hydrops fetalis, Non-immune hydrops fetalis
RS2101557799 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2101558812 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS2101563488 ADAR Health Risk Likely pathogenic Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6
RS2101565765 ADAR Health Risk Pathogenic Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6
RS2101568680 ADAMTSL4 Health Risk Pathogenic —
RS2101576292 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2101579172 ADAR Health Risk Likely pathogenic Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6
RS2101582188 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS2101582643 ADAMTSL4 Health Risk Pathogenic —
RS2101584216 ADAMTSL4 Health Risk Pathogenic Ectopia lentis 2, isolated
RS2101584597 ADAMTSL4 Health Risk Pathogenic Ectopia lentis et pupillae, Ectopia lentis 2
RS2101585615 TDRKH Health Risk Pathogenic Azoospermia, Azoospermia
RS2101588892 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2101589045 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2101595036 COL11A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 2, COL11A1-related disorder
RS2101602721 VPS13D Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2101615505 VPS13D Health Risk Likely pathogenic Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome, Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
RS2101615506 VPS13D Health Risk Likely pathogenic —
RS2101619771 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2101621602 SLC16A1 Health Risk Likely pathogenic —
RS2101625861 COL11A1 Health Risk Likely pathogenic —
RS2101627871 ADAMTSL4 Health Risk Likely pathogenic —
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