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
RS199476133 MT-ATP6 Health Risk Pathogenic Leigh syndrome, NARP syndrome
RS199476135 MT-ATP6 Health Risk Likely pathogenic Leigh syndrome, Striatonigral degeneration
RS199476137 MT-ATP6;MT-CO3 Health Risk Likely pathogenic Seizures and lactic acidosis, Leber optic atrophy
RS199476138 MT-ATP6 Health Risk Pathogenic Leigh syndrome, Charcot-Marie-Tooth disease
RS199476142 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS199476144 MT-TV Health Risk Likely pathogenic Leigh syndrome, MELAS syndrome
RS199476145 TPM2 Health Risk Likely pathogenic Nemaline myopathy, Nemaline myopathy
RS199476146 TPM2 Health Risk Pathogenic Congenital myopathy 23, Arthrogryposis
RS199476147 TPM2 Health Risk Likely pathogenic Arthrogryposis, distal
RS199476151 TPM2 Health Risk Conflicting classifications of pathogenicity —
RS199476153 TPM2 Health Risk Pathogenic Congenital myopathy 23, Arthrogryposis
RS199476154 TPM2 Health Risk Pathogenic Arthrogryposis, distal
RS199476182 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476183 CYP4V2 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS199476184 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476185 CYP4V2 Health Risk Conflicting classifications of pathogenicity Bietti crystalline corneoretinal dystrophy, Corneal dystrophy
RS199476186 CYP4V2 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476187 CYP4V2 Health Risk Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS199476188 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476189 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS199476190 CYP4V2 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS199476191 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476192 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476194 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinitis pigmentosa
RS199476195 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476196 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476197 CYP4V2 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS199476198 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Retinal dystrophy
RS199476199 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476200 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476201 CYP4V2 Health Risk Likely pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476202 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476203 CYP4V2 Health Risk Pathogenic/Likely pathogenic Bietti crystalline corneoretinal dystrophy, Retinal disorder
RS199476204 CYP4V2 Health Risk Pathogenic Bietti crystalline corneoretinal dystrophy, Bietti crystalline corneoretinal dystrophy
RS199476301 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS199476305 TPM1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS199476306 TPM1 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS199476310 TPM1 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS199476311 TPM1 Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1Y
RS199476312 TPM1 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS199476315 TPM1 Health Risk Pathogenic/Likely pathogenic Left ventricular noncompaction 9, Primary familial hypertrophic cardiomyopathy
RS199476316 TPM1 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS199476317 TPM1 Health Risk Pathogenic Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS199476319 TPM1 Health Risk Pathogenic Left ventricular noncompaction 9, Left ventricular noncompaction 9
RS199476322 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS199476324 CAV3 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS199476325 CAV3 Health Risk Conflicting classifications of pathogenicity Rippling muscle disease 2, Long QT syndrome
RS199476331 CAV3 Health Risk Pathogenic Rippling muscle disease 2, Rippling muscle disease 2
RS199476337 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS199476341 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476342 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476343 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476345 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476347 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476349 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Neurologic
RS199476351 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476352 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Frontotemporal dementia
RS199476355 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Inborn genetic diseases
RS199476356 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476358 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476359 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476360 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476365 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476366 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476367 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476368 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476370 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476371 ARSA Health Risk Pathogenic METACHROMATIC LEUKODYSTROPHY, SEVERE
RS199476373 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476374 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476375 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476376 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476377 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476379 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476380 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476382 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476384 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476386 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476387 ARSA Health Risk Conflicting classifications of pathogenicity Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476388 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476389 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476390 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476391 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476392 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS199476393 TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS199476396 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome
RS199476398 MYOZ2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 16, Hypertrophic cardiomyopathy 16
RS199476401 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Primary dilated cardiomyopathy
RS199476408 MYPN Health Risk Pathogenic Cardiomyopathy, familial restrictive
RS199476412 MYPN Health Risk Conflicting classifications of pathogenicity MYPN-related myopathy, Dilated cardiomyopathy 1KK
RS199497486 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Neonatal seizure
RS199497561 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Inborn genetic diseases
RS199498675 MPDU1 Health Risk Conflicting classifications of pathogenicity MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS199498784 PTPN11 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS199498900 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS199499193 TXNDC15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199499499 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS199499672 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS199499878 GNAS Health Risk Conflicting classifications of pathogenicity GNAS-related disorder, GNAS-related disorder
RS199499934 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
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