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
RS2149300813 DNMT3A Health Risk Pathogenic See cases, See cases
RS2149301822 DOCK7 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 23
RS2149303071 CAMTA1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS2149303084 CAMTA1 Health Risk Pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2149303175 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2149307214 DNMT3A Health Risk Pathogenic/Likely pathogenic Neonatal hypotonia, Autism spectrum disorder
RS2149307985 DNMT3A Health Risk Likely pathogenic Heyn-Sproul-Jackson syndrome, Heyn-Sproul-Jackson syndrome
RS2149312917 MYO6 Health Risk Pathogenic —
RS2149314726 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149320961 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2149321922 MYO6 Health Risk Pathogenic/Likely pathogenic MYO6-related disorder, MYO6-related disorder
RS2149322991 COL12A1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2149323203 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2149323564 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2149323575 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2149323618 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2149323799 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2149323805 MMACHC Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2149323826 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2149323855 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS2149323872 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2149323994 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS2149325212 PAK3 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 30
RS2149331785 PROM1 Health Risk Pathogenic —
RS2149337320 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2149340429 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS2149341072 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS2149344192 COL12A1 Health Risk Likely pathogenic Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS2149347262 PRDM5 Health Risk Pathogenic —
RS2149347420 MYO6 Health Risk Pathogenic —
RS2149347624 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2149347766 MYO6 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS2149349312 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2149349423 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149349537 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149349862 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149350038 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149350070 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149350132 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149350164 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149350194 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149350253 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS2149350391 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149350435 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149352030 RYR2 Health Risk Pathogenic Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome
RS2149352927 COL12A1 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2149353116 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149353940 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149354389 RYR2 Health Risk Likely pathogenic Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149354441 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149356861 CNGB1 Health Risk Likely pathogenic —
RS2149357361 CNGB1 Health Risk Pathogenic —
RS2149358455 CNGB1 Health Risk Pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS2149358561 CNGB1 Health Risk Pathogenic —
RS2149358592 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS2149358928 MYO6 Health Risk Likely pathogenic —
RS2149359004 MYO6 Health Risk Pathogenic —
RS2149359022 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS2149359033 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS2149360884 NEB Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS2149362043 CNGB1 Health Risk Pathogenic —
RS2149364126 CNGB1 Health Risk Likely pathogenic —
RS2149364141 CNGB1 Health Risk Pathogenic —
RS2149364812 CNGB1 Health Risk Pathogenic —
RS2149364869 CNGB1 Health Risk Pathogenic —
RS2149365348 DNMT3A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2149365370 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS2149365500 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2149365820 CNGB1 Health Risk Pathogenic —
RS2149366496 CNGB1 Health Risk Pathogenic —
RS2149366536 CNGB1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2149367858 MYO6 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37
RS2149367866 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2149368227 MYO6 Health Risk Pathogenic —
RS2149368742 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2149369481 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2149371436 PDE8B Health Risk Pathogenic —
RS2149371451 PDE8B Health Risk Pathogenic Autosomal dominant striatal neurodegeneration type 1, Autosomal dominant striatal neurodegeneration type 1
RS2149371468 PDE8B Health Risk Pathogenic —
RS2149372033 CNGB1 Health Risk Pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS2149372690 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2149373593 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2149374086 USP53 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS2149375770 ADGRV1 Health Risk Likely pathogenic —
RS2149377370 ADGRV1 Health Risk Pathogenic —
RS2149378392 DEPDC5 Health Risk Pathogenic —
RS2149381577 PROM1 Health Risk Pathogenic —
RS2149382649 PPP2CA Health Risk Pathogenic —
RS2149382671 PPP2CA Health Risk Likely pathogenic —
RS2149383143 PPP2CA Health Risk Pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS2149383148 PPP2CA Health Risk Pathogenic —
RS2149383411 PPP2CA Health Risk Pathogenic —
RS2149383419 PPP2CA Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS2149383774 ADGRV1 Health Risk Pathogenic —
RS2149384599 PPP2CA Health Risk Likely pathogenic —
RS2149388002 CNGB1 Health Risk Pathogenic —
RS2149388042 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149388137 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2149389813 USP53 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS2149390162 WDFY3 Health Risk Likely pathogenic Macrocephaly, Microcephaly 18
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