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
RS1777239433 FIG4 Health Risk Likely pathogenic Cerebral hypomyelination, Cerebral hypomyelination
RS1777242231 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1777270779 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1777296419 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1777299176 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1777305165 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1777306901 SYNGAP1 Health Risk Pathogenic —
RS1777307832 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS1777321509 RARS2 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1777360602 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1777387465 DNAH5 Health Risk Pathogenic DNAH5-related disorder, DNAH5-related disorder
RS1777434181 TNXB Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS1777499541 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS17775170 SLC9A2 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS17776256 TMEM260 Health Risk Likely pathogenic —
RS1777638564 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS1777654334 CPLANE1 Health Risk Likely pathogenic Joubert syndrome 1, Joubert syndrome 1
RS1777663813 CPLANE1 Health Risk Likely pathogenic See cases, See cases
RS1777777927 PLG Health Risk Pathogenic Plasminogen deficiency, type I
RS1777825845 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS1777874560 MYO6 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22
RS1777909965 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1777959239 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1777959964 TERC Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1777963643 LOC110806306;TERC Health Risk Likely pathogenic —
RS1777963668 TERC Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1777964165 TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS1777983774 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1778000792 TDP2 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 23
RS1778006795 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS1778054006 MYO6 Health Risk Likely pathogenic MYO6-related disorder, MYO6-related disorder
RS1778083045 FIG4 Health Risk Pathogenic —
RS1778129968 FIG4 Health Risk Pathogenic —
RS1778144240 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1778167481 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1778167658 FIG4 Health Risk Likely pathogenic Severe global developmental delay, Penile hypospadias
RS1778232291 TNXB Health Risk Likely pathogenic —
RS1778238126 RSPH3 Health Risk Likely pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS1778273068 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1778283565 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1778379197 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1778386695 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1778446608 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS1778646780 TNXB Health Risk Pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS1778714650 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1778747154 MAK Health Risk Likely pathogenic —
RS1778756196 ARID1B;LOC115308161;LOC129997523 Health Risk Pathogenic —
RS1778783139 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS1778789800 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1778791602 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1778794132 RSPH3 Health Risk Pathogenic Primary ciliary dyskinesia 32, Primary ciliary dyskinesia 32
RS1778794887 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1778806259 TRDN Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1778806787 ARID1B Health Risk Likely pathogenic Intellectual disability, Hirsutism
RS1778824262 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1778831733 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS1778838576 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1778877596 ARID1B Health Risk Pathogenic —
RS1778885211 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1778893542 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1778926656 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1778944605 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1778945620 ARID1B Health Risk Pathogenic Inborn genetic diseases, ARID1B-related disorder
RS1778960981 BRAT1 Health Risk Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1778980785 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures
RS1778981404 MYO6 Health Risk Pathogenic —
RS1778987915 BRAT1 Health Risk Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1778991422 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1778991763 ARID1B Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS1778992944 AHI1 Health Risk Likely pathogenic Joubert syndrome 3, Joubert syndrome 3
RS1779001773 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1779001902 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1779002290 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1779004027 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1779009539 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1779015991 ARID1B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1779020146 ARID1B Health Risk Likely pathogenic —
RS1779022643 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1779031164 ARID1B Health Risk Likely pathogenic —
RS1779032666 ARID1B Health Risk Pathogenic/Likely pathogenic Intellectual disability, Inborn genetic diseases
RS1779035528 CPLANE1 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS1779043930 CPLANE1 Health Risk Pathogenic —
RS1779064401 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS1779066083 PLN Health Risk Pathogenic Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
RS1779066131 COL10A1 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS1779066482 COL10A1 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
RS1779067300 COL10A1 Health Risk Likely pathogenic —
RS1779072006 PLN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1P, Cardiovascular phenotype
RS1779072705 COL10A1 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS1779073142 COL10A1 Health Risk Likely pathogenic —
RS1779077264 COL10A1 Health Risk Pathogenic —
RS1779105755 BRAT1 Health Risk Likely pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS1779135449 MPC1 Health Risk Likely pathogenic Mitochondrial pyruvate carrier deficiency, Mitochondrial pyruvate carrier deficiency
RS1779262959 IFNGR1 Health Risk Likely pathogenic Disseminated atypical mycobacterial infection, Disseminated atypical mycobacterial infection
RS1779318396 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1779323338 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1779368057 BRAT1 Health Risk Pathogenic —
RS1779402696 TRDN Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 5, Catecholaminergic polymorphic ventricular tachycardia 5
RS1779406142 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS1779423047 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
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