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
RS2067019858 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067020259 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067020544 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067021249 NF1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2067030499 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067030828 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067031065 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067031123 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067031470 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067032198 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067032355 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067037065 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067037428 NF1 Health Risk Pathogenic —
RS2067037681 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067037965 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067038047 NF1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Neurofibromatosis
RS2067038120 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067038509 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067039276 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067039387 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067039946 NF1 Health Risk Conflicting classifications of pathogenicity Café-au-lait macules with pulmonary stenosis, Neurofibromatosis
RS2067060145 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067064355 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067064699 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067064931 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067065066 NF1 Health Risk Pathogenic —
RS2067065463 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067065647 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067065846 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067065917 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067066435 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067066922 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067066952 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067067405 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067069052 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067070365 NF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2067071059 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067071714 OPN1LW Health Risk Pathogenic Cone monochromatism, Cone monochromatism
RS2067071786 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067072110 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067072148 OPN1LW Health Risk Pathogenic —
RS2067072694 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067073056 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067073241 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067073865 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067074098 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067074423 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067074457 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067079746 COL4A5 Health Risk Likely pathogenic —
RS2067082634 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067082667 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067083148 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067083151 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067083389 NF1 Health Risk Pathogenic —
RS2067083472 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067083695 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067084312 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067084444 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067084803 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067085335 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067087661 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2067089729 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067090473 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067090561 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067091045 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067091492 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067091515 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067091604 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067091646 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067091885 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067091912 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067092112 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067092561 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067099763 CASK Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Najm type, Intellectual disability
RS2067100386 CASK Health Risk Pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2067101256 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS2067101855 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067102269 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067102964 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067108651 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, COL4A5-related disorder
RS2067109223 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067109423 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067110004 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2067110688 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067111489 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, RPGR-related retinopathy
RS2067114709 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 3
RS2067115815 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067116490 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067117239 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067117666 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067118339 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067122084 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067122183 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067122345 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067122558 NF1 Health Risk Pathogenic —
RS2067122696 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067122982 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067123355 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067123493 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067123721 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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