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
RS2533930806 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533930930 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533931043 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533931293 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533931355 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533931655 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, DSP-related disorder
RS2533931658 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533931670 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533931709 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533931787 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533931834 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533932302 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533932461 DSP Health Risk Pathogenic Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533932465 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533932553 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2533935849 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533935968 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533936024 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533936096 DSP Health Risk Likely pathogenic DSP-related disorder, DSP-related disorder
RS2533936126 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533936385 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533936922 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533937328 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533937518 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533937556 DSP Health Risk Likely pathogenic Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533937802 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533938442 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533938581 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533938996 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533939177 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533939668 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533940144 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533940515 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533941740 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiomyopathy
RS2533941799 DSP Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533941884 DSP Health Risk Likely pathogenic Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533942196 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533942281 DSP Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533942752 DSP Health Risk Pathogenic DSP-related disorder, Arrhythmogenic right ventricular dysplasia 8
RS2533942793 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533943665 DSP Health Risk Likely pathogenic —
RS2533943691 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533944330 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Cardiovascular phenotype
RS2533944558 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533944765 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533944959 DSP Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Cardiovascular phenotype
RS2533945206 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533945316 DSP Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533945755 DSP Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533945847 DSP Health Risk Likely pathogenic Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533945856 DSP Health Risk Likely pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533946250 EYS Health Risk Pathogenic —
RS2533947051 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533947357 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533947751 DSP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS2533947784 DSP Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic right ventricular dysplasia 8
RS2533948241 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533948349 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533949001 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533949081 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533949234 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533949247 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533949441 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2533949461 DSP Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2533949772 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533949795 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS2533950351 DSP Health Risk Likely pathogenic —
RS2533951873 PSMB1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, hypotonia
RS2533985399 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533985932 DNAH8 Health Risk Likely pathogenic DNAH8-related disorder, DNAH8-related disorder
RS2533988710 TTN Health Risk Likely pathogenic Centronuclear myopathy, Dilated cardiomyopathy 1G
RS2534002869 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534003198 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534003263 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534003354 IDUA Health Risk Pathogenic Mucopolysaccharidosis, MPS-I-S
RS2534003429 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534003798 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534007813 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534008343 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534009501 SIL1 Health Risk Likely pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2534009524 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS2534029459 RAC1 Health Risk Likely pathogenic —
RS2534029561 RAC1 Health Risk Pathogenic Intellectual disability, autosomal dominant 48
RS2534029571 RAC1 Health Risk Pathogenic Intellectual disability, autosomal dominant 48
RS2534033985 RALA Health Risk Likely pathogenic Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
RS2534033999 RALA Health Risk Likely pathogenic Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
RS2534040086 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS2534042345 FILIP1 Health Risk Pathogenic Neuromuscular disorder, congenital
RS2534043245 COXFA4 Health Risk Pathogenic Mitochondrial complex IV deficiency, nuclear type 21
RS2534047310 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2534047485 RAC1 Health Risk Likely pathogenic —
RS2534048198 AP5Z1 Health Risk Pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS2534048550 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2534049660 RALA Health Risk Likely pathogenic Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
RS2534049677 RALA Health Risk Likely pathogenic Hiatt-Neu-Cooper neurodevelopmental syndrome, Hiatt-Neu-Cooper neurodevelopmental syndrome
RS2534050728 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS2534055729 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2534056842 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534062497 MAD1L1 Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2534064900 AP5Z1 Health Risk Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
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