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
RS2471727531 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471727605 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Brugada syndrome
RS2471728089 THRB Health Risk Pathogenic Thyroid hormone resistance, generalized
RS2471728666 THRB Health Risk Likely pathogenic Thyroid hormone resistance, generalized
RS2471729239 THRB Health Risk Conflicting classifications of pathogenicity THRB-related disorder, THRB-related disorder
RS2471733263 HESX1 Health Risk Pathogenic Septo-optic dysplasia sequence, Septo-optic dysplasia sequence
RS2471733937 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471733954 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471733960 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471737125 HESX1 Health Risk Pathogenic —
RS2471740178 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471740235 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471740271 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471740291 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471740325 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471744785 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471744858 FOXC1 Health Risk Pathogenic Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face
RS2471744884 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS2471744989 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471744994 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471745030 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471745691 SCN5A Health Risk Pathogenic Long QT syndrome 3, Long QT syndrome 3
RS2471747786 SCN5A Health Risk Pathogenic Brugada syndrome, Brugada syndrome
RS2471748093 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471748797 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2471749816 SCN5A Health Risk Pathogenic Brugada syndrome 1, Brugada syndrome 1
RS2471754193 SCN5A Health Risk Pathogenic Cardiac arrhythmia, Brugada syndrome
RS2471754528 SCN5A Health Risk Pathogenic Cardiac arrhythmia, Brugada syndrome
RS2471754553 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2471754589 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471754892 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471762530 SCN5A Health Risk Pathogenic —
RS2471763081 SCN5A Health Risk Pathogenic —
RS2471763175 SCN5A Health Risk Likely pathogenic Brugada syndrome, Brugada syndrome
RS2471763320 SCN5A Health Risk Pathogenic —
RS2471766771 QRICH1 Health Risk Likely pathogenic Ververi-Brady syndrome, Ververi-Brady syndrome
RS2471766903 QRICH1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2471767329 SCN5A Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471772220 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471775554 SCN5A Health Risk Likely pathogenic —
RS2471775566 SCN5A Health Risk Likely pathogenic —
RS2471783321 POU1F1 Health Risk Pathogenic —
RS2471783330 POU1F1 Health Risk Pathogenic —
RS2471785512 FANCE Health Risk Pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS2471785963 SCN5A Health Risk Likely pathogenic —
RS2471786478 POU1F1 Health Risk Pathogenic —
RS2471786494 POU1F1 Health Risk Pathogenic —
RS2471787771 POU1F1 Health Risk Pathogenic —
RS2471787843 POU1F1 Health Risk Likely pathogenic —
RS2471793457 ROBO1 Health Risk Likely pathogenic —
RS2471793778 PROS1 Health Risk Likely pathogenic —
RS2471793821 PROS1 Health Risk Likely pathogenic Protein S deficiency disease, Protein S deficiency disease
RS2471793830 PROS1 Health Risk Likely pathogenic —
RS2471793974 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS2471801299 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471801949 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471802453 SCN5A Health Risk Pathogenic —
RS2471802474 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471802644 POU1F1 Health Risk Likely pathogenic —
RS2471803456 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2471803949 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2471807073 POU1F1 Health Risk Likely pathogenic —
RS2471807189 POU1F1 Health Risk Pathogenic —
RS2471807594 POU1F1 Health Risk Pathogenic —
RS2471816852 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471816999 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471817112 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471822309 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471822311 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471822543 GBE1 Health Risk Likely pathogenic Glycogen storage disease IV, classic hepatic
RS2471826054 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS2471826221 GBE1 Health Risk Pathogenic Glycogen storage disease IV, classic hepatic
RS2471826563 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IV, classic hepatic
RS2471826564 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471828509 GBE1 Health Risk Likely pathogenic Glycogen storage disease IV, classic hepatic
RS2471838167 SCN5A Health Risk Pathogenic —
RS2471839050 SCN5A Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2471839510 SCN5A Health Risk Likely pathogenic —
RS2471844538 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2471848000 SCN5A Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471848165 SCN5A Health Risk Pathogenic —
RS2471848482 SCN5A Health Risk Pathogenic —
RS2471852020 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2471852703 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2471856206 QARS1 Health Risk Likely pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2471859404 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2471863066 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2471864436 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471864491 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471864589 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS2471867142 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2471867217 QARS1 Health Risk Pathogenic Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS2471888911 SCN5A Health Risk Likely pathogenic —
RS2471890417 SCN5A Health Risk Likely pathogenic —
RS2471895234 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2471904012 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS2471904945 SCN5A Health Risk Pathogenic —
RS2471907076 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2471917414 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS2471917592 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
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