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
RS2107725932 COL7A1 Health Risk Likely pathogenic —
RS2107726116 COL7A1 Health Risk Pathogenic —
RS2107726546 PTPN23 Health Risk Pathogenic —
RS2107727475 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107728359 COL7A1 Health Risk Likely pathogenic —
RS2107728809 SETD2 Health Risk Pathogenic —
RS2107729763 DOCK3 Health Risk Pathogenic —
RS2107729801 PTPN23 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS2107730191 PTPN23 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2107731142 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107732969 COL7A1 Health Risk Pathogenic —
RS2107733058 COL7A1 Health Risk Pathogenic —
RS2107735424 KY Health Risk Likely pathogenic Myofibrillar myopathy 7, Myofibrillar myopathy 7
RS2107736723 COL7A1 Health Risk Likely pathogenic —
RS2107738780 SETD2 Health Risk Likely pathogenic —
RS2107739635 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2107739850 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2107741719 COL7A1 Health Risk Pathogenic/Likely pathogenic Transient bullous dermolysis of the newborn, Transient bullous dermolysis of the newborn
RS2107741763 SETD2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS2107742434 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS2107742867 COL7A1 Health Risk Likely pathogenic —
RS2107743381 FOXL2 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Premature ovarian failure 3
RS2107743526 FOXL2 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2107743541 FOXL2 Health Risk Pathogenic/Likely pathogenic Blepharophimosis, ptosis
RS2107744072 FOXL2 Health Risk Likely pathogenic —
RS2107744367 COL7A1 Health Risk Likely pathogenic —
RS2107744454 FOXL2 Health Risk Pathogenic —
RS2107744566 FOXL2 Health Risk Likely pathogenic —
RS2107744774 FOXL2 Health Risk Pathogenic —
RS2107744913 FOXL2 Health Risk Pathogenic —
RS2107746826 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS2107748182 COL7A1 Health Risk Pathogenic —
RS2107748579 FOXP1 Health Risk Pathogenic —
RS2107749132 COL7A1 Health Risk Pathogenic —
RS2107750137 COL7A1 Health Risk Pathogenic —
RS2107755031 COL7A1 Health Risk Pathogenic Abnormality of the skin, Abnormality of the skin
RS2107756223 COL7A1 Health Risk Pathogenic —
RS2107757088 COL7A1 Health Risk Pathogenic —
RS2107757949 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107760251 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS2107760970 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107763474 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107763964 COL7A1 Health Risk Pathogenic —
RS2107771861 COL7A1 Health Risk Likely pathogenic Transient bullous dermolysis of the newborn, Transient bullous dermolysis of the newborn
RS2107788093 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107788141 COL7A1 Health Risk Pathogenic —
RS2107790996 COL7A1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS2107793116 COL7A1 Health Risk Pathogenic —
RS2107793500 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107793510 COL7A1 Health Risk Likely pathogenic —
RS2107794257 COL7A1 Health Risk Pathogenic —
RS2107795483 COL7A1 Health Risk Likely pathogenic —
RS2107799999 COL7A1 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS2107801259 COL7A1 Health Risk Pathogenic —
RS2107801858 COPB2 Health Risk Pathogenic Osteoporosis, childhood- or juvenile-onset
RS2107807665 COL7A1 Health Risk Pathogenic —
RS2107807701 COPB2 Health Risk Pathogenic Osteoporosis, childhood- or juvenile-onset
RS2107807874 COL7A1 Health Risk Likely pathogenic —
RS2107811815 COL7A1 Health Risk Pathogenic —
RS2107812280 COL7A1 Health Risk Pathogenic —
RS2107814279 STAG1 Health Risk Pathogenic/Likely pathogenic See cases, See cases
RS2107821339 STAG1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2107821352 STAG1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2107823148 ROBO1 Health Risk Pathogenic Short stature, Short stature
RS2107830116 ZNF148 Health Risk Likely pathogenic —
RS2107831013 STAG1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2107831036 ZNF148 Health Risk Pathogenic/Likely pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS2107831883 ZNF148 Health Risk Likely pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS2107832092 ZNF148 Health Risk Pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS2107833567 ZNF148 Health Risk Likely pathogenic Global developmental delay, absent or hypoplastic corpus callosum
RS2107843274 UQCRC1 Health Risk Pathogenic Parkinsonism with polyneuropathy, Parkinsonism with polyneuropathy
RS2107905472 STAG1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 47
RS2107905668 STAG1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 47
RS2107907632 DBR1 Health Risk risk factor Encephalitis, acute
RS2107907650 DBR1 Health Risk risk factor Encephalitis, acute
RS2107921941 UBA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 44
RS2107922089 UBA5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 44
RS2107925842 TF Health Risk Likely pathogenic Atransferrinemia, Atransferrinemia
RS2107927490 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3A, Usher syndrome type 3A
RS2107927719 CLRN1 Health Risk Likely pathogenic Retinitis pigmentosa 61, Neuronal ceroid lipofuscinosis
RS2107927808 CLRN1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2107927978 CLRN1 Health Risk Pathogenic —
RS2107928969 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107929323 DAG1 Health Risk Likely pathogenic Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration
RS2107931458 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107932045 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107932226 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107932966 AMT Health Risk Likely pathogenic Glycine encephalopathy 2, Glycine encephalopathy 2
RS2107933731 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107933735 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107933839 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107935604 DAG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2P, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS2107935989 AMT Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107937267 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107937292 UBA5 Health Risk Likely pathogenic —
RS2107937352 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS2107937370 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107937536 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS2107937574 AMT Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 2
RS2107938475 AMT Health Risk Likely pathogenic Glycine encephalopathy 2, Glycine encephalopathy 2
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