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
RS1553437028 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1553437083 RAB3GAP1 Health Risk Pathogenic Martsolf syndrome, Martsolf syndrome 2
RS1553437737 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS1553437759 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS1553442237 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS1553443360 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1553444644 RAB3GAP1 Health Risk Pathogenic/Likely pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1553444895 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS1553444917 EDAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
RS1553445945 EDAR Health Risk Likely pathogenic Ectodermal dysplasia, Ectodermal dysplasia
RS1553445966 EDAR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1553446603 NCAPH Health Risk Pathogenic Microcephaly 23, primary
RS1553447991 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, Achromatopsia 2
RS1553448320 EDAR Health Risk Pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type
RS1553448527 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553449159 GLI2 Health Risk Likely pathogenic —
RS1553449458 MERTK Health Risk Pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1553450734 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, Achromatopsia
RS1553450762 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS1553450764 CNGA3 Health Risk Pathogenic Achromatopsia, Achromatopsia
RS1553450895 CNGA3 Health Risk Likely pathogenic —
RS1553450979 CNGA3 Health Risk Likely pathogenic —
RS1553452169 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1553453324 RYR2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1553453398 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1553453945 MMADHC Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblD, MMADHC-related disorder
RS1553454436 MMADHC Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1553454799 MERTK Health Risk Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS1553454821 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1553456695 NR4A2 Health Risk Likely pathogenic Epilepsy, Epilepsy
RS1553457607 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553458019 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS1553458060 MERTK Health Risk Likely pathogenic —
RS1553458124 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1553459020 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Singleton-Merten syndrome 1
RS1553461156 REEP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1553461660 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553461662 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553461665 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553461672 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1553462132 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553462134 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS1553462203 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1553462224 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1553462227 SCN2A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS1553462741 REEP1 Health Risk Likely pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
RS1553463032 SCN2A Health Risk Pathogenic SCN2A-related disorder, Complex neurodevelopmental disorder
RS1553463038 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Benign familial infantile epilepsy
RS1553463042 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1553463074 SCN2A Health Risk Pathogenic —
RS1553463096 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, SCN2A-related disorder
RS1553463119 SCN2A Health Risk Pathogenic/Likely pathogenic Seizures, benign familial infantile
RS1553463140 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1553463427 SCN2A Health Risk Pathogenic Episodic ataxia, type 9
RS1553463464 SCN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553463513 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1553463516 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553463586 SCN2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553463594 SCN2A Health Risk Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1553463602 SCN2A Health Risk Likely pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1553463634 SCN2A Health Risk Pathogenic —
RS1553463635 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553463649 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS1553463676 SCN2A Health Risk Conflicting classifications of pathogenicity Seizure, Developmental and epileptic encephalopathy
RS1553463718 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS1553463764 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS1553463772 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS1553463775 SCN2A Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS1553463778 KIF5C Health Risk Pathogenic/Likely pathogenic Complex cortical dysplasia with other brain malformations 2, Complex cortical dysplasia with other brain malformations 2
RS1553463850 SCN2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553466082 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1553466434 DCTN1 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1553466489 ABCB11 Health Risk Pathogenic —
RS1553468235 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1553468939 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553468960 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553469070 CHRNA1 Health Risk Likely pathogenic —
RS1553469156 SLC25A12 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 39
RS1553469502 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553469514 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553469602 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1553471273 GLI2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1553472127 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553472910 SCN9A Health Risk Likely pathogenic —
RS1553473041 SCN9A Health Risk Pathogenic/Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS1553473186 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1553474394 SCN9A Health Risk Pathogenic Paroxysmal extreme pain disorder, Paroxysmal extreme pain disorder
RS1553474406 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS1553474576 CNNM4 Health Risk Conflicting classifications of pathogenicity —
RS1553475005 CHN1 Health Risk Pathogenic Duane retraction syndrome 2, Duane retraction syndrome 2
RS1553476382 GLI2 Health Risk Pathogenic/Likely pathogenic Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1553476928 TTN Health Risk Likely pathogenic —
RS1553477189 GLI2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553477432 TTN Health Risk Conflicting classifications of pathogenicity —
RS1553478042 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553478423 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS1553478584 SCN9A Health Risk Pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS1553479210 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1553479216 SCN9A Health Risk Pathogenic Inborn genetic diseases, Neuropathy
RS1553479405 GLI2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
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