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
RS2147011325 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147013169 TSEN54 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A
RS2147013931 TSEN54 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2147014804 CIC Health Risk Pathogenic Intellectual disability, autosomal dominant 45
RS2147015547 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2147016450 MYO18B Health Risk Pathogenic —
RS2147016815 OFD1 Health Risk Likely pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS2147018633 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS2147019098 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147019113 PHEX Health Risk Pathogenic —
RS2147019118 PHEX Health Risk Pathogenic —
RS2147019218 PHEX Health Risk Pathogenic —
RS2147019225 TSEN54 Health Risk Pathogenic —
RS2147019228 PHEX Health Risk Pathogenic —
RS2147019252 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147019260 PHEX Health Risk Pathogenic —
RS2147019297 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147019311 PHEX Health Risk Likely pathogenic —
RS2147019791 TSEN54 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS2147020339 PHEX Health Risk Pathogenic —
RS2147020361 PHEX Health Risk Pathogenic —
RS2147020395 PHEX Health Risk Pathogenic —
RS2147020408 PHEX Health Risk Pathogenic —
RS2147020412 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147020424 PHEX Health Risk Likely pathogenic —
RS2147020604 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147020659 PHEX Health Risk Pathogenic —
RS2147020687 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS2147020723 PHEX Health Risk Pathogenic —
RS2147020737 PHEX Health Risk Pathogenic —
RS2147020776 PHEX Health Risk Pathogenic —
RS2147020850 PHEX Health Risk Pathogenic —
RS2147020868 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS2147023849 MOV10L1 Health Risk Pathogenic Spermatogenic failure 73, Non-obstructive azoospermia
RS2147024104 MYO18B Health Risk Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS2147025679 NYX Health Risk Pathogenic —
RS2147025694 NYX Health Risk Pathogenic —
RS2147025796 NYX Health Risk Pathogenic —
RS2147025929 NYX Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2147026037 NYX Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2147026045 NYX Health Risk Pathogenic —
RS2147026091 NYX Health Risk Pathogenic —
RS2147026251 NYX Health Risk Pathogenic —
RS2147026571 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147026677 NYX Health Risk Likely pathogenic Congenital stationary night blindness 1A, Congenital stationary night blindness 1A
RS2147027077 OFD1 Health Risk Pathogenic Simpson-Golabi-Behmel syndrome type 2, Retinitis pigmentosa 23
RS2147027403 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147029623 UPB1 Health Risk Pathogenic —
RS2147031368 CECR2 Health Risk Conflicting classifications of pathogenicity CECR2-related neurodevelopmental disorder, See cases
RS2147031776 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147032028 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147032671 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147033060 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147033447 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2147033488 DMD Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS2147033589 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147033768 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147035203 USP9X Health Risk Likely pathogenic —
RS2147035443 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS2147035468 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147035526 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147035547 PHEX Health Risk Pathogenic —
RS2147035555 PHEX Health Risk Pathogenic —
RS2147035585 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147035589 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147036064 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2147040166 PHEX Health Risk Pathogenic —
RS2147040206 PHEX Health Risk Pathogenic —
RS2147040227 PHEX Health Risk Pathogenic —
RS2147040261 PHEX Health Risk Pathogenic/Likely pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147040265 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS2147041278 UPB1 Health Risk Pathogenic Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS2147043566 PHEX Health Risk Pathogenic —
RS2147043596 PHEX Health Risk Pathogenic —
RS2147043669 PHEX Health Risk Pathogenic —
RS2147043679 PHEX Health Risk Pathogenic —
RS2147043710 PHEX Health Risk Pathogenic —
RS2147043777 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147047042 PHEX Health Risk Pathogenic —
RS2147047261 PHEX Health Risk Pathogenic —
RS2147047486 PHEX Health Risk Pathogenic —
RS2147047501 PHEX Health Risk Pathogenic/Likely pathogenic PHEX-related disorder, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147047519 PHEX Health Risk Pathogenic —
RS2147047536 PHEX Health Risk Pathogenic —
RS2147047571 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147047585 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147049209 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2147051643 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147052253 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147053098 NDUFB11 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2147053345 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147053913 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS2147054656 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2147059734 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2147059978 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2147060430 OFD1 Health Risk Likely pathogenic Joubert syndrome 10, Joubert syndrome 10
RS2147060461 OFD1 Health Risk Likely pathogenic Orofaciodigital syndrome I, Orofaciodigital syndrome I
RS2147061892 PHEX Health Risk Pathogenic —
RS2147061992 PHEX Health Risk Pathogenic —
RS2147062018 PHEX Health Risk Pathogenic —
« Prev 1 ... 1877 1878 1879 1880 1881 1882 1883 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →