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
RS2518153097 ITSN1 Health Risk Likely pathogenic Generalized-onset seizure, Generalized-onset seizure
RS2518153183 PCNT Health Risk Pathogenic —
RS2518153329 PCNT Health Risk Pathogenic —
RS2518153447 PCNT Health Risk Pathogenic —
RS2518160258 CACNA1I Health Risk Pathogenic Neurodevelopmental disorder with speech impairment and with or without seizures, Neurodevelopmental disorder with speech impairment and with or without seizures
RS2518161108 TRIOBP Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2518162094 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518162180 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518162686 TRMU Health Risk Pathogenic/Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518170070 SF3A1 Health Risk Pathogenic Malignant lymphoma, large B-cell
RS2518177413 TRIOBP Health Risk Pathogenic —
RS2518178649 TRMU Health Risk Pathogenic —
RS2518179076 TRMU Health Risk Pathogenic —
RS2518179155 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518179292 TRMU Health Risk Pathogenic —
RS2518179911 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518179937 TRMU Health Risk Pathogenic —
RS2518182063 CACNA1I Health Risk Pathogenic Neurodevelopmental disorder with speech impairment and with or without seizures, Neurodevelopmental disorder with speech impairment and with or without seizures
RS2518188382 TRIOBP Health Risk Pathogenic —
RS2518189757 ACO2 Health Risk Likely pathogenic Optic atrophy 9, Optic atrophy
RS2518189759 ACO2 Health Risk Likely pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS2518190654 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518190941 TRMU Health Risk Pathogenic —
RS2518191775 TRMU Health Risk Pathogenic —
RS2518191972 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518195149 TRIOBP Health Risk Pathogenic —
RS2518196896 TCF20 Health Risk Pathogenic —
RS2518196909 TCF20 Health Risk Pathogenic —
RS2518197535 HPS4 Health Risk Pathogenic —
RS2518199038 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2518201260 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518201331 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Germ cell tumor of testis
RS2518201350 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518201351 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518201657 TRMU Health Risk Pathogenic —
RS2518202100 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518202141 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518202180 TRMU Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS2518202192 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518202230 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518202814 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518204649 TCF20 Health Risk Pathogenic/Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518209232 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518210719 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518210728 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518210879 TCF20 Health Risk Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518210953 ACO2 Health Risk Pathogenic —
RS2518211131 TRMU Health Risk Pathogenic —
RS2518211177 TRMU Health Risk Pathogenic —
RS2518211256 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518211384 TRMU Health Risk Pathogenic —
RS2518211396 TRMU Health Risk Pathogenic —
RS2518211501 TRMU Health Risk Pathogenic —
RS2518211598 TRMU Health Risk Pathogenic —
RS2518211627 HPS4 Health Risk Pathogenic —
RS2518211759 TCF20 Health Risk Pathogenic —
RS2518212002 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518212222 TRMU Health Risk Likely pathogenic —
RS2518212238 TRMU Health Risk Likely pathogenic —
RS2518212988 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518215402 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518215957 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS2518216310 TRMU Health Risk Pathogenic —
RS2518216660 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518216788 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518216846 ACO2 Health Risk Pathogenic —
RS2518217148 TCF20 Health Risk Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518218275 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518219983 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518222254 ACO2 Health Risk Likely pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS2518222390 ACO2 Health Risk Pathogenic —
RS2518222528 TCF20 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2518222791 ACO2 Health Risk Pathogenic —
RS2518222824 TCF20 Health Risk Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518223057 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518223366 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS2518223728 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518223988 PCNT Health Risk Pathogenic —
RS2518224183 PCNT Health Risk Pathogenic —
RS2518224688 ACO2 Health Risk Pathogenic Infantile cerebellar-retinal degeneration, Infantile cerebellar-retinal degeneration
RS2518225113 PCNT Health Risk Likely pathogenic —
RS2518225140 TCF20 Health Risk Pathogenic/Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518225484 SERPIND1 Health Risk Likely pathogenic Hemorrhage, Hemorrhage
RS2518225685 ACO2 Health Risk Likely pathogenic —
RS2518225761 TRIOBP Health Risk Likely pathogenic TRIOBP-related disorder, TRIOBP-related disorder
RS2518225830 NF2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2518225875 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518227349 ACO2 Health Risk Pathogenic/Likely pathogenic —
RS2518227378 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518228232 NF2 Health Risk Pathogenic Neurofibromatosis, type 2
RS2518228363 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518228505 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS2518229209 HPS4 Health Risk Pathogenic —
RS2518229658 ACO2 Health Risk Likely pathogenic —
RS2518229660 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518229756 ACO2 Health Risk Pathogenic —
RS2518229785 ACO2 Health Risk Pathogenic Optic atrophy 9, Optic atrophy 9
RS2518230173 TCF20 Health Risk Pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518230292 ACO2 Health Risk Pathogenic —
RS2518231025 TCF20 Health Risk Likely pathogenic TCF20-related disorder, TCF20-related disorder
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