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
RS2520865607 CACNA1F Health Risk Likely pathogenic X-linked cone-rod dystrophy 3, X-linked cone-rod dystrophy 3
RS2520865886 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2520865940 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS2520866043 CHM Health Risk Pathogenic —
RS2520866066 SOX3 Health Risk Pathogenic X-linked intellectual disability with isolated growth hormone deficiency, X-linked intellectual disability with isolated growth hormone deficiency
RS2520866183 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS2520866393 CHM Health Risk Likely pathogenic Choroideremia, Choroideremia
RS2520867051 CHM Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2520867977 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2520868157 CACNA1F Health Risk Pathogenic —
RS2520869335 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2520869573 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2520871549 CACNA1F Health Risk Pathogenic —
RS2520872355 CACNA1F Health Risk Pathogenic —
RS2520877178 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520877438 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520884260 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520884503 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520884782 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520884993 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520885035 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS2520885299 SMC1A Health Risk Likely pathogenic —
RS2520886754 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2520887188 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2520887287 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520887376 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520887463 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520889050 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS2520895017 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520895106 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520895194 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2520895216 GLA Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Fabry disease
RS2520895308 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2520895663 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520895683 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520895871 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520896006 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520896190 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520896777 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520896826 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520897240 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520897254 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520897726 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2520897937 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520900006 IDS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520900502 IDS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Mucopolysaccharidosis
RS2520900702 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520900881 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2520900915 IDS Health Risk Likely pathogenic Inborn genetic diseases, Mucopolysaccharidosis
RS2520901143 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS2520901458 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520901887 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520901934 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520902533 IDS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-II
RS2520902687 CACNA1F Health Risk Pathogenic —
RS2520903522 CACNA1F Health Risk Pathogenic —
RS2520904563 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520904776 SMC1A Health Risk Pathogenic —
RS2520905278 CACNA1F Health Risk Likely pathogenic —
RS2520906768 CACNA1F Health Risk Likely pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS2520906991 LAMP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2520907960 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520908238 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520908416 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520910742 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520910813 IDS Health Risk Pathogenic Mucopolysaccharidosis, MPS-II
RS2520911966 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2520912484 LAMP2 Health Risk Likely pathogenic Danon disease, Danon disease
RS2520912530 LAMP2 Health Risk Likely pathogenic Danon disease, Danon disease
RS2520912584 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2520912945 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2520912970 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520913146 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520913256 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2520913284 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520913315 LAMP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2520913405 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2520913421 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520913492 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520913626 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS2520914004 GLA Health Risk Likely pathogenic —
RS2520914744 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS2520916556 CACNA1F Health Risk Likely pathogenic —
RS2520919876 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520920773 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS2520926208 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520927640 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520927651 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Inborn genetic diseases
RS2520927817 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520927898 ARR3 Health Risk Likely pathogenic ARR3-related disorder, ARR3-related disorder
RS2520927961 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520928651 SMC1A Health Risk Pathogenic See cases, See cases
RS2520928997 SMC1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 85
RS2520929186 SMC1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital muscular hypertrophy-cerebral syndrome
RS2520930037 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520930054 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520930073 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520930904 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520934320 ARR3 Health Risk Pathogenic/Likely pathogenic Myopia 26, X-linked
RS2520938847 FRMD7 Health Risk Likely pathogenic —
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