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
RS2102912948 WDR26 Health Risk Likely pathogenic See cases, See cases
RS2102914069 WDR26 Health Risk Pathogenic —
RS2102915741 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102915746 NTRK1 Health Risk Likely pathogenic —
RS2102916915 ACTN2 Health Risk Likely pathogenic Intrinsic cardiomyopathy, Intrinsic cardiomyopathy
RS2102917659 NTRK1 Health Risk Likely pathogenic Ovarian cancer, Ovarian cancer
RS2102919112 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102919122 ACTN2 Health Risk Likely pathogenic —
RS2102919542 WDR26 Health Risk Conflicting classifications of pathogenicity Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2102919917 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102920071 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102920143 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102920283 TBCE Health Risk Likely pathogenic Encephalopathy, progressive
RS2102925213 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102925337 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102926443 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2102926494 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2102927015 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102927297 NTRK1 Health Risk Likely pathogenic —
RS2102927340 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102927408 ACTN2 Health Risk Likely pathogenic —
RS2102930403 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2102930594 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2102930678 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2102930721 WDR26 Health Risk Pathogenic Skraban-Deardorff syndrome, Skraban-Deardorff syndrome
RS2102934288 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2102934597 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2102942477 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS2102942512 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS2102944436 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102944438 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102944440 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Glaucoma 1
RS2102944466 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102944475 MYOC Health Risk Likely pathogenic Glaucoma 1, open angle
RS2102944566 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102944606 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102944632 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102944655 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102944665 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102944853 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102944863 MYOC Health Risk Pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102944873 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS2102947297 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2102947618 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2102951896 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS2102980705 CACNA1E Health Risk Likely pathogenic —
RS2102984978 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102985018 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102985060 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102985114 HNRNPU Health Risk Pathogenic —
RS2102985115 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2102985380 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS2102985384 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS2102985419 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102985675 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102985743 HNRNPU Health Risk Likely pathogenic —
RS2102985855 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2102985883 HNRNPU Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2102985889 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102986721 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102986749 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102987091 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102987155 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102987181 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2102987183 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102987471 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102989374 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2102989400 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102989487 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102990539 HNRNPU Health Risk Pathogenic heterogeneous nuclear ribonucleoprotein G, human
RS2102990567 HNRNPU Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2102990594 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS2102990974 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2102990989 HNRNPU Health Risk Conflicting classifications of pathogenicity heterogeneous nuclear ribonucleoprotein G, human
RS2102991012 HNRNPU Health Risk Pathogenic Developmental and epileptic encephalopathy, 54
RS2103013785 FMN2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2103015324 COA6 Health Risk Likely pathogenic See cases, See cases
RS2103042605 EDARADD Health Risk Likely pathogenic Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type
RS2103083622 NLRP3 Health Risk Pathogenic Cerebral arteriovenous malformation, Cerebral arteriovenous malformation
RS2103084742 NLRP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Cryopyrin associated periodic syndrome
RS2103107063 NLRP3 Health Risk Pathogenic/Likely pathogenic Chronic infantile neurological, cutaneous and articular syndrome
RS2103108898 NLRP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Cryopyrin associated periodic syndrome
RS2103111391 NLRP3 Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2103111548 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2103111608 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2103111657 CDC73 Health Risk Pathogenic —
RS2103111785 CDC73 Health Risk Pathogenic Hyperparathyroidism 2 with jaw tumors, Hyperparathyroidism 2 with jaw tumors
RS2103112183 NLRP3 Health Risk Likely pathogenic —
RS2103112233 NLRP3 Health Risk Likely pathogenic Cryopyrin associated periodic syndrome, See cases
RS2103114004 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2103114052 CDC73 Health Risk Likely pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2103117753 CDC73 Health Risk Likely pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2103117757 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS2103117916 CDC73 Health Risk Likely pathogenic Parathyroid carcinoma, Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
RS2103117989 CDC73 Health Risk Likely pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2103121472 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2103121496 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2103121703 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS2103121721 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS2103123807 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
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