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
RS2516164780 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516164897 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516165624 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516165933 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516166292 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516167210 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516167273 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516167608 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516167961 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516168233 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516169508 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516169701 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516170525 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516170535 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516171041 NDUFAF5 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS2516172821 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516172888 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516173100 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516173144 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516174223 POFUT1 Health Risk Pathogenic Dowling-Degos disease 2, Dowling-Degos disease 2
RS2516175715 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516175807 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516175842 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516175890 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516175979 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516176081 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516177016 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2516177430 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516177505 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516177530 PRPF31 Health Risk Pathogenic —
RS2516180932 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516181122 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516185027 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2516185103 KCNQ2 Health Risk Pathogenic/Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516185345 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516186456 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516186640 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516186898 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516187432 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS2516187638 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516187639 NDUFAF5 Health Risk Pathogenic —
RS2516188649 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516188730 NDUFAF5 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516188853 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2516189091 NDUFAF5 Health Risk Pathogenic —
RS2516189150 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516189237 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516193520 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2516196116 PRPF31 Health Risk Likely pathogenic —
RS2516196919 ADA Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516197070 ADA Health Risk Likely pathogenic —
RS2516197108 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2516197396 PRPF31 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2516204990 PRPF31 Health Risk Pathogenic —
RS2516205141 PRPF31 Health Risk Pathogenic —
RS2516205158 PRPF31 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2516205278 PRPF31 Health Risk Pathogenic —
RS2516206256 PRPF31 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2516206308 PRPF31 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2516206372 PRPF31 Health Risk Pathogenic —
RS2516206637 PRPF31 Health Risk Pathogenic PRPF31-related disorder, PRPF31-related disorder
RS2516208014 PRPF31 Health Risk Pathogenic —
RS2516230862 NDUFAF5 Health Risk Pathogenic —
RS2516231282 NDUFAF5 Health Risk Pathogenic —
RS2516232840 CEP250 Health Risk Pathogenic —
RS2516234229 CEP250 Health Risk Pathogenic —
RS2516235312 CEP250 Health Risk Pathogenic —
RS2516237462 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516244932 CEP250 Health Risk Pathogenic —
RS2516260557 CEP250 Health Risk Pathogenic —
RS2516270105 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516270378 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516270409 NDUFAF5 Health Risk Pathogenic —
RS2516270551 NDUFAF5 Health Risk Pathogenic —
RS2516273685 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516274126 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516274344 NDUFAF5 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS2516279954 CEP250 Health Risk Pathogenic —
RS2516310445 KCNQ2 Health Risk Likely pathogenic Autosomal dominant epilepsy, Autosomal dominant epilepsy
RS2516345389 CYP24A1 Health Risk Likely pathogenic CYP24A1-related disorder, CYP24A1-related disorder
RS2516352608 CYP24A1 Health Risk Likely pathogenic —
RS2516362777 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516364122 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516364365 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516364432 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516364470 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2516364667 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516364978 KCNQ2 Health Risk Pathogenic Seizures, benign familial neonatal
RS2516365119 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2516370196 GNAS Health Risk Likely pathogenic Pseudohypoparathyroidism type 1B, Pseudohypoparathyroidism type 1B
RS2516371188 GNAS Health Risk Likely pathogenic —
RS2516376283 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS2516381362 ATP9A Health Risk Likely pathogenic —
RS2516384106 ATP9A Health Risk Pathogenic Neurodevelopmental disorder with poor growth and behavioral abnormalities, Neurodevelopmental disorder with poor growth and behavioral abnormalities
RS2516400177 CYP24A1 Health Risk Pathogenic —
RS2516403268 CYP24A1 Health Risk Likely pathogenic Hypercalcemia, infantile
RS2516403351 CYP24A1 Health Risk Pathogenic —
RS2516404261 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS2516405173 CYP24A1 Health Risk Likely pathogenic Hypercalcemia, infantile
RS2516408449 KCNQ2 Health Risk Pathogenic Seizure, Early-infantile DEE
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