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
RS1574965220 INPP4A Health Risk Likely pathogenic Pectus excavatum, Nystagmus
RS1574972784 XPC Health Risk Likely pathogenic Xeroderma pigmentosum, group C
RS1574975196 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1574975203 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1574976615 COL6A3 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1574980061 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1574980125 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1574980606 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1574981296 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1574982376 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Cardiovascular phenotype
RS1574984736 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS1574990483 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1574990526 COL6A3 Health Risk Pathogenic —
RS1574994308 TRIP12 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Clark-Baraitser syndrome
RS1575005369 ATP2B2 Health Risk Likely pathogenic —
RS1575009907 ATP2B2 Health Risk Likely pathogenic —
RS1575013953 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1575014889 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1575014943 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS1575019786 ABCA12 Health Risk Pathogenic —
RS1575023205 TRIP12 Health Risk Likely pathogenic —
RS1575024425 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1575029290 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1575029719 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1575029897 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1575031012 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1575051224 ERBB4 Health Risk Likely pathogenic NK-cell enteropathy, NK-cell enteropathy
RS1575058847 MTX2 Health Risk Pathogenic Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome
RS1575060677 ZNF142 Health Risk Pathogenic Intellectual disability, Seizure
RS1575062905 MTX2 Health Risk Pathogenic Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome
RS1575062987 MTX2 Health Risk Pathogenic Progeroid mandibuloacral dysplasia, Mandibuloacral dysplasia progeroid syndrome
RS1575065895 SPEG Health Risk Likely pathogenic Myopathy, centronuclear
RS1575066836 TRNT1 Health Risk Pathogenic Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome, Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
RS1575073974 TRIP12 Health Risk Pathogenic —
RS1575076514 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS1575079032 ECEL1 Health Risk Pathogenic —
RS1575079076 CRBN Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1575094649 CRBN Health Risk Likely pathogenic Intellectual disability, autosomal recessive 2
RS1575105918 TRIP12 Health Risk Pathogenic —
RS1575107759 SPEG Health Risk Pathogenic —
RS1575108381 BCS1L Health Risk Pathogenic —
RS1575108396 BCS1L Health Risk Likely pathogenic —
RS1575122070 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS1575124128 TRIP12 Health Risk Pathogenic —
RS1575125943 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1575135380 SATB1 Health Risk Pathogenic Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
RS1575147319 UNC80 Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1575147387 BRPF1 Health Risk Pathogenic —
RS1575155995 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Sudden unexplained death in childhood
RS1575157782 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1575158079 TGFBR2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 2, Malignant tumor of esophagus
RS1575158141 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1575158954 TGFBR2 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS1575161164 TRIP12 Health Risk Likely pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS1575164369 BRPF1 Health Risk Pathogenic —
RS1575165264 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1575165272 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection
RS1575166666 TGFBR2 Health Risk Pathogenic/Likely pathogenic Malignant tumor of esophagus, Familial thoracic aortic aneurysm and aortic dissection
RS1575169924 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1575175498 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS1575179679 UNC80 Health Risk Likely pathogenic Hypotonia, infantile
RS1575183610 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS1575185742 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1575189496 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1575196325 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1575197564 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1575201609 SPEG Health Risk Likely pathogenic —
RS1575201712 SPEG Health Risk Pathogenic/Likely pathogenic Myopathy, centronuclear
RS1575203936 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS1575206357 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS1575206658 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1575206688 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1575214374 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1575215909 NEK10 Health Risk Pathogenic Ciliary dyskinesia, primary
RS1575218072 KLHL40 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1575218831 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1575219172 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1575219191 KLHL40 Health Risk Likely pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS1575223142 TTN Health Risk Conflicting classifications of pathogenicity —
RS1575233692 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS1575235227 WNT10A Health Risk Pathogenic Odonto-onycho-dermal dysplasia, Odonto-onycho-dermal dysplasia
RS1575235801 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1575240334 LARS2 Health Risk Likely pathogenic Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
RS1575240464 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1575240506 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1575242633 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS1575245592 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1575247302 SLC25A38 Health Risk Likely pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS1575253896 TTN Health Risk Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS1575255333 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1575259969 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1575265345 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1575266004 SUMF1 Health Risk Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1575266034 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1575269011 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1575270894 NRXN1 Health Risk Pathogenic/Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1575277408 NRXN1 Health Risk Pathogenic —
RS1575278743 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS1575279293 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1575283255 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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