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
RS1597716924 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597717017 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597717471 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597717530 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597717610 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597717672 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597717684 NF1 Health Risk Pathogenic Tibial pseudarthrosis, Neurofibromatosis
RS1597717694 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597718106 CTCF Health Risk Conflicting classifications of pathogenicity CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS1597718735 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597718765 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597719461 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1597719471 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597719490 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597719498 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597719504 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597719535 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597719619 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597719643 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597719654 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597719704 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597719889 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597719982 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597720036 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597720167 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597720280 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597722169 PSMC3IP Health Risk Pathogenic Ovarian dysgenesis 3, Ovarian dysgenesis 3
RS1597722374 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597722390 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597722429 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597722477 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597722508 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597722611 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597722644 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1597722866 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597723059 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1597725291 CTCF Health Risk Likely pathogenic CTCF-related neurodevelopmental disorder, CTCF-related neurodevelopmental disorder
RS1597730335 TCF12 Health Risk Likely pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS1597734976 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597735056 NF1 Health Risk Pathogenic —
RS1597735166 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597735186 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597735265 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597735272 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597735273 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597741198 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1597741256 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS1597741306 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1597741316 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1597742452 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1597745535 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597745559 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1597745583 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1597745662 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597745663 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597745689 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597745728 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597746020 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1597746280 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1597746884 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597746891 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597746962 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597746982 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597747012 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597747184 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597747826 MYO15A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1597748607 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597748617 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597748630 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597748656 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597748663 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1597748682 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597748742 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597748749 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597748782 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597748891 NF1 Health Risk Pathogenic —
RS1597748995 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS1597749210 CHRNB1 Health Risk Likely pathogenic Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 2A
RS1597749763 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS1597749796 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS1597752877 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1597752941 SCAPER Health Risk Likely pathogenic Intellectual developmental disorder and retinitis pigmentosa, IDDRP
RS1597753176 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597753208 NF1 Health Risk Pathogenic Tibial pseudarthrosis, Neurofibromatosis
RS1597753246 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1597753263 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597753353 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1597753664 MYO15A Health Risk Pathogenic —
RS1597754305 MYO15A Health Risk Likely pathogenic —
RS1597768378 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1597780918 MYO15A Health Risk Likely pathogenic —
RS1597781765 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS1597782553 JUP Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS1597782599 MYOCD Health Risk Pathogenic Prune belly syndrome, Megabladder
RS1597784648 MYO15A Health Risk Pathogenic —
RS1597787868 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1597788212 EFTUD2 Health Risk Pathogenic —
RS1597789186 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS1597794572 KRT9 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1597795170 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
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