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
RS2518233282 ACO2 Health Risk Likely pathogenic ACO2-related disorder, ACO2-related disorder
RS2518236207 ACO2 Health Risk Likely pathogenic Optic atrophy 9, Optic atrophy 9
RS2518236265 ACO2 Health Risk Likely pathogenic Optic atrophy 9, Optic atrophy 9
RS2518236280 ACO2 Health Risk Pathogenic —
RS2518236588 ACO2 Health Risk Pathogenic —
RS2518236599 ACO2 Health Risk Pathogenic —
RS2518238622 TCF20 Health Risk Pathogenic —
RS2518238822 TCF20 Health Risk Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518240864 ACO2 Health Risk Pathogenic —
RS2518241727 TCF20 Health Risk Pathogenic TCF20-related disorder, TCF20-related disorder
RS2518242171 TCF20 Health Risk Pathogenic See cases, See cases
RS2518242829 TCF20 Health Risk Likely pathogenic Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS2518243341 TCF20 Health Risk Pathogenic —
RS2518244849 TCF20 Health Risk Pathogenic —
RS2518248717 TCF20 Health Risk Pathogenic —
RS2518249621 TCF20 Health Risk Pathogenic —
RS2518252276 HPS4 Health Risk Pathogenic —
RS2518262086 PCNT Health Risk Pathogenic —
RS2518262220 PCNT Health Risk Pathogenic —
RS2518262867 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2518263394 PCNT Health Risk Pathogenic —
RS2518263563 PCNT Health Risk Pathogenic —
RS2518263805 PCNT Health Risk Pathogenic —
RS2518263880 PCNT Health Risk Pathogenic —
RS2518264355 PCNT Health Risk Pathogenic —
RS2518285878 HPS4 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS2518287411 ADARB1 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, microcephaly
RS2518295645 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518309690 PI4KA Health Risk Pathogenic —
RS2518312698 MLC1 Health Risk Likely pathogenic —
RS2518313444 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518316990 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518317021 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518317033 MLC1 Health Risk Pathogenic —
RS2518317355 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518321342 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518321498 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518321662 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, ARSA-related disorder
RS2518322020 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518322092 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518322313 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518322373 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518322494 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518323495 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518324057 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518325834 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518326035 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518326252 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518326786 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518326922 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518326996 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518327103 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518327153 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518327296 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518327424 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518329356 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518329600 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518329660 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518329837 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518329977 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518330963 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518331282 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518331715 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518332037 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518332484 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518333393 MLC1 Health Risk Pathogenic —
RS2518333422 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518333469 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518333795 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518333804 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518333855 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518334049 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518334157 ARSL Health Risk Pathogenic —
RS2518334179 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518334198 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518334330 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518334400 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518334579 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518336818 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518336823 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518336953 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS2518338237 MLC1 Health Risk Likely pathogenic —
RS2518346073 ARSL Health Risk Likely pathogenic X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS2518346615 ARSL Health Risk Pathogenic X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS2518357998 MLC1 Health Risk Pathogenic —
RS2518358218 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518359086 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518362817 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518363378 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518364241 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2518365137 DEPDC5 Health Risk Pathogenic Epilepsy, familial focal
RS2518365694 DEPDC5 Health Risk Likely pathogenic Lung cancer, Lung cancer
RS2518369116 ARSL Health Risk Likely pathogenic X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata 1
RS2518369951 MLC1 Health Risk Pathogenic/Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518370183 MLC1 Health Risk Pathogenic —
RS2518370885 MLC1 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS2518371253 SHANK3 Health Risk Likely pathogenic SHANK3-related disorder, SHANK3-related disorder
RS2518371261 SHANK3 Health Risk Pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS2518374358 SHANK3 Health Risk Pathogenic —
RS2518385011 ARSL Health Risk Pathogenic Chondrodysplasia punctata, brachytelephalangic
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