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
RS2519810129 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2519814938 RPS6KA3 Health Risk Likely pathogenic RPS6KA3-related disorder, RPS6KA3-related disorder
RS2519818462 CASK Health Risk Pathogenic —
RS2519819468 CASK Health Risk Pathogenic/Likely pathogenic Intellectual disability, CASK-related
RS2519822407 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Thyroid cancer
RS2519822410 ZMYM3 Health Risk Likely pathogenic Intellectual developmental disorder, X-linked 112
RS2519822632 RPGR Health Risk Likely pathogenic —
RS2519822897 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519822953 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519822979 RPGR Health Risk Pathogenic Retinitis pigmentosa, X-linked
RS2519823354 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519828744 RPGR Health Risk Pathogenic/Likely pathogenic X-linked cone-rod dystrophy 1, See cases
RS2519828813 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519829231 RPGR Health Risk Likely pathogenic —
RS2519829361 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2519829445 AR Health Risk Pathogenic Kennedy disease, Androgen resistance syndrome
RS2519829579 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519829798 RPGR Health Risk Pathogenic Retinal dystrophy, RPGR-related retinopathy
RS2519829828 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519829870 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519831064 ABCB7 Health Risk Likely pathogenic —
RS2519833050 DMD Health Risk Likely pathogenic —
RS2519835312 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS2519835321 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519835678 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519835731 ZMYM3 Health Risk Pathogenic Intellectual developmental disorder, X-linked 112
RS2519836297 RPGR Health Risk Likely pathogenic —
RS2519837398 RLIM Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 61
RS2519840681 IQSEC2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519840760 AR Health Risk Pathogenic See cases, See cases
RS2519840766 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519840985 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519841050 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS2519841067 IQSEC2 Health Risk Likely pathogenic —
RS2519842626 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS2519843476 ARHGEF9 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 8
RS2519844189 ARHGEF9 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 8
RS2519844209 ARHGEF9 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519844888 CASK Health Risk Likely pathogenic Syndromic X-linked intellectual disability Najm type, Syndromic X-linked intellectual disability Najm type
RS2519845669 AR Health Risk Pathogenic AR-related disorder, AR-related disorder
RS2519845902 BCOR Health Risk Likely pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519847148 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2519847164 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS2519847231 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519847298 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519847311 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519847450 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519847459 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519847537 RPGR Health Risk Likely pathogenic —
RS2519847860 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519848724 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519849358 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519850121 FGF16 Health Risk Likely pathogenic FGF16-related disorder, FGF16-related disorder
RS2519851401 IQSEC2 Health Risk Pathogenic Intellectual disability, X-linked 1
RS2519851872 IQSEC2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2519853547 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS2519855439 BCOR Health Risk Pathogenic Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS2519857115 FRMPD4 Health Risk Pathogenic —
RS2519857290 FRMPD4 Health Risk Likely pathogenic Intellectual disability, X-linked 104
RS2519859595 FRMPD4 Health Risk Likely pathogenic Intellectual disability, X-linked 104
RS2519860231 TBX22 Health Risk Pathogenic Cleft palate with ankyloglossia, Cleft palate with ankyloglossia
RS2519860240 TBX22 Health Risk Likely pathogenic Cleft palate with or without ankyloglossia, X-linked
RS2519860273 FRMPD4 Health Risk Likely pathogenic —
RS2519860735 FRMPD4 Health Risk Pathogenic —
RS2519861850 FRMPD4 Health Risk Likely pathogenic Intellectual disability, X-linked 104
RS2519865384 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS2519865708 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519865852 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519866350 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2519866591 RPGR Health Risk Likely pathogenic —
RS2519868619 DLG3 Health Risk Likely pathogenic Intellectual disability, X-linked 90
RS2519876529 ZFX Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS2519885015 DLG3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 90
RS2519885230 NONO Health Risk Pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS2519886488 NONO Health Risk Likely pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS2519886525 NONO Health Risk Pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS2519886575 NONO Health Risk Likely pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS2519886586 NONO Health Risk Pathogenic Non-ossifying fibromas with pathologic factures and X-linked intellectual disability, Non-ossifying fibromas with pathologic factures and X-linked intellectual disability
RS2519888415 RPGR Health Risk Pathogenic Retinitis pigmentosa, X-linked
RS2519888486 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519888531 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519888989 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, X-linked cone-rod dystrophy
RS2519889046 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519889525 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519894537 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519894551 RPGR Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519894671 RPGR Health Risk Likely pathogenic —
RS2519895065 RPGR Health Risk Likely pathogenic —
RS2519895135 RPGR Health Risk Likely pathogenic Primary ciliary dyskinesia, Retinitis pigmentosa 3
RS2519895161 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519895210 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519895230 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519896045 NONO Health Risk Likely pathogenic Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS2519899305 ATRX Health Risk Pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS2519900420 ZFX Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS2519900660 ZFX Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS2519901935 RP2 Health Risk Pathogenic —
RS2519902021 RP2 Health Risk Pathogenic —
RS2519902120 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2519902152 RP2 Health Risk Pathogenic —
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