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
RS2147062072 PHEX Health Risk Pathogenic —
RS2147062104 PHEX Health Risk Pathogenic —
RS2147063753 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147064006 DMD Health Risk Pathogenic —
RS2147064556 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147065556 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147065620 GLRA2 Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS2147065629 PHEX Health Risk Pathogenic —
RS2147065642 PHEX Health Risk Pathogenic —
RS2147065695 PHEX Health Risk Pathogenic —
RS2147065739 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147065777 PHEX Health Risk Pathogenic —
RS2147065825 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147070761 CEP250 Health Risk Pathogenic —
RS2147070763 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS2147071440 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147071577 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2147071740 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147071888 DMD Health Risk Likely pathogenic —
RS2147071925 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147071947 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147072145 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147072473 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147073084 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147074584 RP2 Health Risk Pathogenic —
RS2147074594 RP2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS2147074613 RP2 Health Risk Pathogenic —
RS2147074624 RP2 Health Risk Pathogenic —
RS2147074627 RP2 Health Risk Pathogenic —
RS2147074689 RP2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2147074694 RP2 Health Risk Pathogenic —
RS2147075563 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147075923 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2147076330 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147076359 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147076500 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Cardiomyopathy
RS2147076595 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2147077488 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2147079960 TANC2 Health Risk Likely pathogenic —
RS2147080697 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2147080766 USP9X Health Risk Pathogenic Intellectual disability, X-linked 99
RS2147080815 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS2147081045 TRMU Health Risk Pathogenic —
RS2147081133 RP2 Health Risk Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS2147081178 RP2 Health Risk Pathogenic —
RS2147081192 RP2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2147081219 RP2 Health Risk Pathogenic —
RS2147081221 RP2 Health Risk Pathogenic —
RS2147081227 RP2 Health Risk Pathogenic —
RS2147081234 RP2 Health Risk Pathogenic —
RS2147081236 RP2 Health Risk Pathogenic —
RS2147081255 RP2 Health Risk Pathogenic —
RS2147081300 RP2 Health Risk Pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS2147081333 RP2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2147081376 RP2 Health Risk Pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS2147081378 RP2 Health Risk Pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS2147081382 RP2 Health Risk Pathogenic —
RS2147081404 RP2 Health Risk Pathogenic —
RS2147081408 RP2 Health Risk Pathogenic —
RS2147081421 RP2 Health Risk Pathogenic —
RS2147081422 RP2 Health Risk Likely pathogenic Retinitis pigmentosa 2, Retinitis pigmentosa 2
RS2147081427 RP2 Health Risk Pathogenic —
RS2147081435 RP2 Health Risk Pathogenic —
RS2147081459 STS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2147081466 RP2 Health Risk Pathogenic —
RS2147081545 RP2 Health Risk Pathogenic —
RS2147081558 RP2 Health Risk Pathogenic —
RS2147081573 RP2 Health Risk Pathogenic —
RS2147081585 RP2 Health Risk Pathogenic —
RS2147081596 RP2 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2147082167 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147082213 OFD1 Health Risk Pathogenic Joubert syndrome, Orofaciodigital syndrome I
RS2147082680 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS2147082728 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147083231 RP2 Health Risk Pathogenic —
RS2147083243 RP2 Health Risk Pathogenic —
RS2147083249 RP2 Health Risk Pathogenic —
RS2147083250 RP2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2147083253 RP2 Health Risk Pathogenic —
RS2147083258 RP2 Health Risk Pathogenic —
RS2147083267 RP2 Health Risk Pathogenic —
RS2147083330 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2147083582 NF2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147084279 NF2 Health Risk Likely pathogenic Neurofibromatosis, type 2
RS2147085761 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2147086219 OFD1 Health Risk Pathogenic —
RS2147086302 OFD1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2147086315 OFD1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2147086323 PHEX Health Risk Likely pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS2147086366 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147086395 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147086402 PHEX Health Risk Pathogenic —
RS2147086411 PHEX Health Risk Likely pathogenic —
RS2147086429 PHEX Health Risk Pathogenic Hypophosphatemic rickets, Hypophosphatemic rickets
RS2147086514 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS2147086549 PHEX Health Risk Pathogenic —
RS2147086568 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2147086570 PHEX Health Risk Pathogenic —
RS2147086590 PHEX Health Risk Pathogenic —
RS2147086611 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
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