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
RS2063918355 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 33, SNRNP200-related disorder
RS2063918440 SNRNP200 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2063918625 CEP250 Health Risk Pathogenic —
RS2063922414 DDX3X Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2063922977 DDX3X Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2063923221 DDX3X Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2063923605 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2063923749 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2063923789 DDX3X Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 102
RS2063927503 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2063927827 DDX3X Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2063927856 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS2063928003 DDX3X Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2063928899 DDX3X Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS2063932925 DDX3X Health Risk Pathogenic —
RS2063933550 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS2063933817 DDX3X Health Risk Pathogenic Global developmental delay, Microcephaly
RS2063939905 DDX3X Health Risk Pathogenic Intellectual disability, Inborn genetic diseases
RS2063940085 DDX3X Health Risk Conflicting classifications of pathogenicity —
RS2063940433 DDX3X Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2063941013 DDX3X Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2063984022 OTUD5 Health Risk Pathogenic Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
RS2064030791 TRIM8 Health Risk Pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS2064030858 TRIM8 Health Risk Pathogenic Neurodevelopmental delay, Focal segmental glomerulosclerosis
RS2064032086 TRIM8 Health Risk Pathogenic Focal segmental glomerulosclerosis and neurodevelopmental syndrome, Focal segmental glomerulosclerosis and neurodevelopmental syndrome
RS2064035939 SNAP25 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2064043746 CEP250 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS2064048389 CEP250 Health Risk Pathogenic —
RS2064077764 CEP250 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS2064092893 CEP250 Health Risk Pathogenic Cone-rod dystrophy and hearing loss 2, Cone-rod dystrophy and hearing loss 2
RS2064136104 CEP250 Health Risk Pathogenic —
RS2064208424 SCN1B Health Risk Pathogenic Brugada syndrome 5, Brugada syndrome 5
RS2064208734 SCN1B Health Risk Likely pathogenic Brugada syndrome 5, Brugada syndrome 5
RS2064221873 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS2064222084 SCN1B Health Risk Pathogenic Brugada syndrome 5, Brugada syndrome 5
RS2064230124 SCN1B Health Risk Pathogenic Brugada syndrome 5, Brugada syndrome 5
RS2064260290 BTD Health Risk Pathogenic Biotinidase deficiency, Biotinidase deficiency
RS2064304102 ARL3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS2064345759 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS2064346850 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nance-Horan syndrome
RS2064355122 SNAP25 Health Risk Likely pathogenic Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy
RS2064355563 SNAP25 Health Risk Likely pathogenic Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy
RS2064376489 NYX Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2064376509 NYX Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
RS2064378728 NYX Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2064439011 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2064448593 TUBGCP6 Health Risk Likely pathogenic —
RS2064466448 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2064470709 TUBGCP6 Health Risk Likely pathogenic Microcephaly and chorioretinopathy 1, Microcephaly and chorioretinopathy 1
RS2064482125 TUBGCP6 Health Risk Likely pathogenic —
RS2064500789 TUBGCP6 Health Risk Pathogenic —
RS2064507825 TUBGCP6 Health Risk Pathogenic —
RS2064509262 TUBGCP6 Health Risk Pathogenic —
RS2064598729 TUBGCP6 Health Risk Pathogenic —
RS2064682269 L1CAM Health Risk Conflicting classifications of pathogenicity —
RS2064684700 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS2064686873 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2064692244 L1CAM Health Risk Likely pathogenic L1 syndrome, L1 syndrome
RS2064692485 L1CAM Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2064703218 L1CAM Health Risk Pathogenic L1 syndrome, L1 syndrome
RS2064704974 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2064712705 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2064715459 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2064716137 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS2064717485 TUBGCP6 Health Risk Pathogenic —
RS2064727120 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2064733634 ZNF408 Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Autosomal recessive retinitis pigmentosa
RS2064735979 COL13A1 Health Risk Pathogenic Congenital myasthenic syndrome 19, Congenital myasthenic syndrome 19
RS2064742830 TFE3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2064742925 TFE3 Health Risk Pathogenic Inborn genetic diseases, Neurodevelopmental abnormality
RS2064747653 L1CAM Health Risk Likely pathogenic MASA syndrome, MASA syndrome
RS2064752971 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2064754424 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2064763561 L1CAM Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2064766332 L1CAM Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2064782292 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS2064809181 L1CAM Health Risk Likely pathogenic MASA syndrome, MASA syndrome
RS2064828055 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2064832233 MPI Health Risk Likely pathogenic —
RS2064836017 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2064839839 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2064840759 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2064840907 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2064843052 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS2064850147 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS2064851971 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2064852005 MKKS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2064860460 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064862256 UNC13D Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064876977 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS2064882892 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS2064886777 F2 Health Risk Pathogenic/Likely pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS2064886794 TUBGCP6 Health Risk Pathogenic —
RS2064887539 TUBGCP6 Health Risk Pathogenic —
RS2064896365 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2064897275 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
RS2064897670 MKKS Health Risk Pathogenic/Likely pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS2064899680 AP4E1 Health Risk Pathogenic Hereditary spastic paraplegia 51, Hereditary spastic paraplegia 51
RS2064902750 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2064903228 MKKS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
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