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
RS515726184 RRM2B Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 8a, RRM2B-related mitochondrial disease
RS515726185 RRM2B Health Risk Pathogenic Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS515726186 RRM2B Health Risk Likely pathogenic RRM2B-related mitochondrial disease, Mitochondrial DNA depletion syndrome 8a
RS515726189 RRM2B Health Risk Conflicting classifications of pathogenicity RRM2B-related mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS515726196 RRM2B Health Risk Pathogenic/Likely pathogenic RRM2B-related mitochondrial disease, Mitochondrial DNA depletion syndrome 8a
RS515726199 RRM2B Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RS515726201 RRM2B Health Risk Pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
RS515726204 C19orf12 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 4, Hereditary spastic paraplegia 43
RS515726205 C19orf12 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 4, Dystonic disorder
RS515726209 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS515726210 CTRC Health Risk Pathogenic Hereditary pancreatitis, Pancreatitis
RS515726212 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS515726215 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS515726216 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS515726217 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS515726218 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS515726220 GNRHR Health Risk Pathogenic Hypogonadotropic hypogonadism 7 with or without anosmia, Hypogonadotropic hypogonadism 7 with or without anosmia
RS515726221 POU1F1 Health Risk Pathogenic Pituitary hormone deficiency, combined
RS515726223 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS515726224 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hartsfield-Bixler-Demyer syndrome
RS515726225 FGFR1 Health Risk Pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS515726227 MSX1 Health Risk Pathogenic Tooth agenesis, selective
RS515726229 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS515726231 NOTCH1 Health Risk Likely pathogenic Heart, malformation of
RS515726232 NOTCH1 Health Risk Likely pathogenic Heart, malformation of
RS515726233 NOTCH1 Health Risk Likely pathogenic Heart, malformation of
RS515726234 TBX5 Health Risk Likely pathogenic Heart, malformation of
RS5174 LRP8 Health Risk risk factor Myocardial infarction, susceptibility to
RS519650 F7 Health Risk Conflicting classifications of pathogenicity Factor VII deficiency, Factor VII deficiency
RS5206 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS5208 KCNJ11 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS5209 KCNJ11 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS521047 RERE Health Risk Likely pathogenic —
RS5212 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 13, Diabetes mellitus
RS5213 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia
RS5214 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 13, Diabetes mellitus
RS5216 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 13, Diabetes mellitus
RS5217 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS5218 KCNJ11 Health Risk association not found Type 2 diabetes mellitus, Type 2 diabetes mellitus
RS527236030 STIM1 Health Risk Pathogenic Myopathy, tubular aggregate
RS527236031 PIGT Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS527236032 PIGT Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 3, Multiple congenital anomalies-hypotonia-seizures syndrome 3
RS527236033 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS527236034 GRIN2B Health Risk Pathogenic Intellectual disability, autosomal dominant 6
RS527236035 MED23 Health Risk Pathogenic Intellectual disability, autosomal recessive 18
RS527236036 MED23 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 18
RS527236037 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS527236038 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS527236039 ERCC6 Health Risk Pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS527236040 DARS1 Health Risk Pathogenic Hypomyelination with brain stem and spinal cord involvement and leg spasticity, Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RS527236046 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Isolated Nonsyndromic Congenital Heart Disease
RS527236048 CHM Health Risk Pathogenic Choroideremia, Retinal dystrophy
RS527236050 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Retinal dystrophy
RS527236055 PCARE Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236056 PCARE Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236058 CNGA1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 49
RS527236059 CNGA1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236060 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 45
RS527236061 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236062 CRX Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236063 CRX Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS527236065 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS527236066 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS527236067 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236068 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236069 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236070 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236071 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236072 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS527236073 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236074 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236075 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236076 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS527236077 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS527236078 EYS Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236079 LRAT Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis
RS527236080 MAK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS527236082 MAK Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236083 MERTK Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236084 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 38, Retinitis pigmentosa
RS527236085 MYO7A Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236086 NR2E3 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 37
RS527236087 NRL Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236088 PDE6B Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 40
RS527236089 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236090 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236091 PDE6B Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236092 PRCD Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 36
RS527236094 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236095 PRPF31 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236096 PRPF6 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236097 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236098 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, PRPH2-related disorder
RS527236099 RDH12 Health Risk Pathogenic Retinitis pigmentosa 53, Retinitis pigmentosa
RS527236100 RHO Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236101 RHO Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 4
RS527236102 RHO Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS527236103 RHO Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS527236105 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS527236107 RP1L1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
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