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
RS1601738571 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1601738999 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1601739229 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601739478 HMOX1 Health Risk Likely pathogenic —
RS1601747985 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Thyroid cancer
RS1601748137 STS Health Risk Pathogenic X-linked ichthyosis with steryl-sulfatase deficiency, X-linked ichthyosis with steryl-sulfatase deficiency
RS1601748177 PHKA2 Health Risk Likely pathogenic PHKA2-related disorder, PHKA2-related disorder
RS1601748216 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601752050 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601752066 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601753141 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601755632 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS1601760689 PHKA2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXa1, Increased hepatic glycogen content
RS1601761445 GLRA2 Health Risk Pathogenic See cases, Intellectual developmental disorder
RS1601763099 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601769604 MSL3 Health Risk Pathogenic Global developmental delay, Basilicata-Akhtar syndrome
RS1601769873 MSL3 Health Risk Pathogenic —
RS1601774648 MSL3 Health Risk Pathogenic/Likely pathogenic Basilicata-Akhtar syndrome, Basilicata-Akhtar syndrome
RS1601776276 PHKA2 Health Risk Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601776523 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601777275 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601779091 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1601780766 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601781024 PHKA2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601781031 PHKA2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS1601782720 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1601783375 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601783879 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601784008 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601792367 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS1601795448 PCNT Health Risk Pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1601803431 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1601805361 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1601805632 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601808175 DMD Health Risk Likely pathogenic —
RS1601808288 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1601808296 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1601808326 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1601808412 DMD Health Risk Pathogenic —
RS1601808608 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1601808932 DMD Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Duchenne muscular dystrophy
RS1601809011 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS1601810456 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1601810667 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1601814238 PDXK Health Risk Likely pathogenic Neuropathy, hereditary motor and sensory
RS1601822717 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601822722 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601823008 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1601823036 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1601823546 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601824130 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601824270 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601825425 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1601825829 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601838818 NHS Health Risk Likely pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS1601842249 MB Health Risk Pathogenic/Likely pathogenic Myopathy, sarcoplasmic body
RS1601844140 TBL1X Health Risk Likely pathogenic Hypothyroidism, congenital
RS1601851066 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601851248 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601851716 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1601851875 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1601852451 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1601853112 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1601853585 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1601855887 CSTB Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS1601856142 ADGRG2 Health Risk Pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1601859570 NHS Health Risk Pathogenic Nance-Horan syndrome, Nance-Horan syndrome
RS1601861196 IFNAR1 Health Risk risk factor Immunodeficiency 106, susceptibility to viral infections
RS1601861199 IFNAR1 Health Risk risk factor Immunodeficiency 106, susceptibility to viral infections
RS1601862802 ADGRG2 Health Risk Pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1601864055 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1601871234 ADGRG2 Health Risk Pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1601875057 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1601878540 SOX10 Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 2E, PCWH syndrome
RS1601878759 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1601880424 GPR143 Health Risk Pathogenic —
RS1601882239 SOX10 Health Risk Likely pathogenic —
RS1601886662 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 2E, Inborn genetic diseases
RS1601887036 SOX10 Health Risk Pathogenic Hypogonadism with anosmia, Hypogonadism with anosmia
RS1601888330 ADGRG2 Health Risk Pathogenic Congenital bilateral aplasia of vas deferens from CFTR mutation, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1601890980 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601891936 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601891967 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601892395 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601910946 GK Health Risk Likely pathogenic —
RS1601914175 PTCHD1 Health Risk Pathogenic —
RS1601917052 RPGR Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1601917999 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1601918140 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1601918200 PTCHD1 Health Risk Likely pathogenic —
RS1601919915 RPGR Health Risk Pathogenic —
RS1601919951 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1601920131 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa
RS1601920423 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 3
RS1601920532 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 3
RS1601920599 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1601922074 RPGR Health Risk Pathogenic —
RS1601922202 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Primary ciliary dyskinesia
RS1601922510 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS1601922877 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
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