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
RS1569304218 GLA Health Risk Likely pathogenic —
RS1569304221 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1569304774 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS1569304851 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1569304867 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1569304886 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1569304898 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS1569304920 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS1569305431 IQSEC2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1569306022 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1569306036 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1569306108 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1569306168 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS1569306181 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS1569306667 IQSEC2 Health Risk Likely pathogenic Intellectual disability, X-linked 1
RS1569306724 CASK Health Risk Pathogenic Intellectual disability, CASK-related
RS1569308524 MYO18B Health Risk Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS1569308571 SMPX Health Risk Pathogenic X-linked deafness, X-linked deafness
RS1569309449 RLIM Health Risk Likely pathogenic Intellectual disability, X-linked 61
RS1569309459 RLIM Health Risk Pathogenic Intellectual disability, X-linked 61
RS1569309460 RLIM Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 61
RS1569309474 RLIM Health Risk Pathogenic Intellectual disability, X-linked 61
RS1569309484 RLIM Health Risk Likely pathogenic Intellectual disability, X-linked 61
RS1569309694 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1569309776 RLIM Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 61
RS1569309816 RLIM Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked 61
RS1569310039 RLIM Health Risk Likely pathogenic —
RS1569310232 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS1569310288 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS1569310542 PHKA2 Health Risk Likely pathogenic —
RS1569312133 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1569314119 PCDH19 Health Risk Pathogenic —
RS1569314152 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1569314471 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1569314475 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1569314508 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS1569314809 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1569314907 WDR4 Health Risk Pathogenic Galloway-Mowat syndrome 6, Galloway-Mowat syndrome 6
RS1569315042 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1569315156 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1569315169 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1569315186 PCDH19 Health Risk Pathogenic —
RS1569315231 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1569315381 PCDH19 Health Risk Pathogenic —
RS1569315403 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1569315508 PCDH19 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569315842 PCDH19 Health Risk Likely pathogenic Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure
RS1569315869 PCDH19 Health Risk Likely pathogenic —
RS1569315876 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1569315950 PCDH19 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569316056 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS1569316085 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 1
RS1569317995 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS1569318004 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS1569319773 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS1569321518 ZDHHC9 Health Risk Likely pathogenic Syndromic X-linked intellectual disability Raymond type, Syndromic X-linked intellectual disability Raymond type
RS1569322834 SYN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1569324457 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1569333062 F9 Health Risk Likely pathogenic —
RS1569333361 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1569334260 PHF6 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS1569334937 NEXMIF Health Risk Pathogenic —
RS1569335056 NEXMIF Health Risk Pathogenic —
RS1569335080 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS1569335135 NEXMIF Health Risk Pathogenic —
RS1569335193 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS1569335235 NEXMIF Health Risk Pathogenic —
RS1569335265 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1569335460 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS1569335485 NEXMIF Health Risk Pathogenic —
RS1569335666 NEXMIF Health Risk Pathogenic —
RS1569335738 NEXMIF Health Risk Pathogenic Thyroid cancer, nonmedullary
RS1569335877 NEXMIF Health Risk Pathogenic —
RS1569335893 NEXMIF Health Risk Pathogenic —
RS1569336024 NEXMIF Health Risk Pathogenic X-linked intellectual disability, Cantagrel type
RS1569337176 ASXL1 Health Risk Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1569337452 ASXL1 Health Risk Pathogenic/Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1569339085 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS1569339879 GPC4 Health Risk Pathogenic Keipert syndrome, Keipert syndrome
RS1569341521 GPC4 Health Risk Pathogenic Keipert syndrome, Keipert syndrome
RS1569343210 PHF6 Health Risk Likely pathogenic —
RS1569344469 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1569345504 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS1569345723 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS1569345742 ZIC3 Health Risk Pathogenic Heterotaxy, visceral
RS1569350501 CASK Health Risk Pathogenic Inborn genetic diseases, Syndromic X-linked intellectual disability Najm type
RS1569350993 POLA1 Health Risk Pathogenic X-linked intellectual disability, van Esch type
RS1569351341 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1569351529 SMS Health Risk Likely pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS1569351534 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1569351907 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1569354918 HPRT1 Health Risk Likely pathogenic Lesch-Nyhan syndrome, HPRT1-related disorder
RS1569355102 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS1569356550 MIR6857;SMC1A Health Risk Pathogenic/Likely pathogenic SMC1A-related disorder, Congenital muscular hypertrophy-cerebral syndrome
RS1569356555 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS1569356968 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1569358628 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1569358774 SMC1A Health Risk Likely pathogenic —
RS1569359021 HPRT1 Health Risk Pathogenic —
RS1569359048 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
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