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
RS1553685707 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1553685927 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553686314 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS1553686321 SLC25A20 Health Risk Pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS1553686345 SLC25A20 Health Risk Pathogenic —
RS1553686994 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553687058 IMPG2 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1553687118 IMPG2 Health Risk Pathogenic Retinitis pigmentosa 56, Retinitis pigmentosa 56
RS1553687219 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1553687863 SLC6A1 Health Risk Pathogenic/Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1553687887 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1553687898 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS1553687907 SLC6A1 Health Risk Likely pathogenic —
RS1553688015 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1553688242 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553688330 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1553688335 COL4A4 Health Risk Pathogenic/Likely pathogenic —
RS1553688405 TTN Health Risk Pathogenic —
RS1553688696 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1553688712 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553688916 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553688970 SLC6A1 Health Risk Pathogenic Inborn genetic diseases, SLC6A1-related neurodevelopmental disorder
RS1553689057 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553689580 SLC6A1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS1553689664 SLC6A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553689696 SLC6A1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Inborn genetic diseases
RS1553689752 ITPR1 Health Risk Pathogenic Gillespie syndrome, Gillespie syndrome
RS1553689774 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553689859 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, SLC6A1-related disorder
RS1553690406 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS1553690421 SLC6A1 Health Risk Likely pathogenic —
RS1553690452 SLC6A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553690565 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Benign familial hematuria
RS1553690583 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1553690601 SLC6A1 Health Risk Pathogenic —
RS1553690604 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553690979 ASXL2 Health Risk Likely pathogenic —
RS1553691122 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553691187 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553691320 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS1553691555 ASXL2 Health Risk Pathogenic —
RS1553691674 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1553691918 GMPPB Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS1553691975 GMPPB Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
RS1553692107 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553692140 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553692290 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553692416 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiac arrhythmia
RS1553692435 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553692660 SCN5A Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553692734 SCN5A Health Risk Pathogenic —
RS1553692822 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553693059 SCN5A Health Risk Pathogenic —
RS1553693444 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553693702 BRPF1 Health Risk Pathogenic —
RS1553693712 BRPF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553693863 BRPF1 Health Risk Pathogenic —
RS1553694247 SCN5A Health Risk Pathogenic/Likely pathogenic Long QT syndrome 3, Long QT syndrome 3
RS1553694398 SCN5A Health Risk Pathogenic Brugada syndrome (shorter-than-normal QT interval), Brugada syndrome (shorter-than-normal QT interval)
RS1553694426 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553694860 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553695017 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS1553695038 BRPF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553695209 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553695222 BRPF1 Health Risk Pathogenic —
RS1553695254 BRPF1 Health Risk Pathogenic —
RS1553695282 SCN5A Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Brugada syndrome
RS1553695389 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Diffuse mesangial sclerosis
RS1553695398 SCN5A Health Risk Pathogenic/Likely pathogenic —
RS1553695557 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553695749 SCN5A Health Risk Likely pathogenic —
RS1553695764 SCN5A Health Risk Pathogenic/Likely pathogenic Brugada syndrome (shorter-than-normal QT interval), Brugada syndrome 1
RS1553695847 SCN5A Health Risk Pathogenic —
RS1553696121 CPOX Health Risk Pathogenic/Likely pathogenic —
RS1553696207 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1553696233 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553696275 BRPF1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553696411 TTN Health Risk Likely pathogenic —
RS1553696482 IFIH1 Health Risk Pathogenic Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS1553696573 CPOX Health Risk Conflicting classifications of pathogenicity —
RS1553696647 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553696967 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1553697218 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553697341 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Inborn genetic diseases
RS1553698475 SCN5A Health Risk Pathogenic —
RS1553698563 SCN5A Health Risk Likely pathogenic Long QT syndrome 1, Cardiovascular phenotype
RS1553698852 SCN5A Health Risk Pathogenic —
RS1553699111 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS1553699115 SETD2 Health Risk Pathogenic Inborn genetic diseases, Neoplasm
RS1553699226 SCN5A Health Risk Pathogenic —
RS1553699238 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553699292 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553699440 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553699454 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1553699607 SCN5A Health Risk Likely pathogenic —
RS1553699620 TTN Health Risk Conflicting classifications of pathogenicity —
RS1553699663 SCN5A Health Risk Pathogenic —
RS1553699747 SCN5A Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553699766 SCN5A Health Risk Likely pathogenic Brugada syndrome (shorter-than-normal QT interval), Brugada syndrome (shorter-than-normal QT interval)
RS1553699802 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
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