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
RS61752112 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisomal biogenesis disorder 3b, Peroxisome biogenesis disorder 3A (Zellweger)
RS61752113 PEX13 Health Risk Pathogenic Peroxisome biogenesis disorder 11B, Peroxisome biogenesis disorder 11B
RS61752115 PEX13 Health Risk Likely pathogenic Peroxisome biogenesis disorder 11B, Peroxisome biogenesis disorder 11A (Zellweger)
RS61752116 PEX14 Health Risk Pathogenic Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder 13A (Zellweger)
RS61752117 PEX16 Health Risk Pathogenic Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder
RS61752118 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS61752119 PEX2 Health Risk Likely pathogenic Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder
RS61752122 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder
RS61752123 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS61752124 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS61752127 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5B, Peroxisome biogenesis disorder 5B
RS61752128 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS61752129 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS61752130 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS61752132 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS61752133 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS61752134 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder 7A (Zellweger)
RS61752135 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS61752136 PEX26 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 7A (Zellweger)
RS61752137 PEX5 Health Risk Pathogenic Peroxisome biogenesis disorder 2A (Zellweger), Peroxisome biogenesis disorder 2B
RS61752138 PEX5 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2A (Zellweger)
RS61752139 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4B
RS61752140 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Heimler syndrome 2
RS61752141 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 4A (Zellweger)
RS61752144 RS1 Health Risk Pathogenic —
RS61752145 RS1 Health Risk Likely pathogenic Retinal dystrophy, Juvenile retinoschisis
RS61752147 RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS61752148 RS1 Health Risk Pathogenic —
RS61752149 RS1 Health Risk Likely pathogenic —
RS61752152 RS1 Health Risk Conflicting classifications of pathogenicity —
RS61752153 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS61752155 RS1 Health Risk Pathogenic —
RS61752156 RS1 Health Risk Pathogenic Retinoschisis, Retinal dystrophy
RS61752157 CDKL5;RS1 Health Risk Pathogenic/Likely pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS61752158 RS1 Health Risk Pathogenic Juvenile retinoschisis, Retinoschisis
RS61752159 RS1 Health Risk Pathogenic Juvenile retinoschisis, Retinal dystrophy
RS61752254 FBXO7 Health Risk Conflicting classifications of pathogenicity Parkinsonian-pyramidal syndrome, FBXO7-related disorder
RS61752327 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS61752334 CUL7 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, 3M syndrome 1
RS61752339 KLHL10 Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, KLHL10-related disorder
RS61752346 LAMA3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Laryngo-onycho-cutaneous syndrome
RS61752372 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61752375 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS61752382 MECP2 Health Risk Conflicting classifications of pathogenicity Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS61752389 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS61752390 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61752391 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal disorder
RS61752393 ABCA4 Health Risk Likely pathogenic —
RS61752394 ABCA4 Health Risk Likely pathogenic —
RS61752395 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, ABCA4-related disorder
RS61752396 ABCA4 Health Risk Pathogenic —
RS61752397 ABCA4 Health Risk Likely pathogenic Stargardt disease 3, Stargardt disease 3
RS61752398 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61752400 ABCA4 Health Risk Pathogenic —
RS61752401 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS61752404 ABCA4 Health Risk Pathogenic —
RS61752406 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61752407 ABCA4 Health Risk Likely pathogenic Retinitis pigmentosa 19, Retinitis pigmentosa 19
RS61752409 ABCA4 Health Risk Likely pathogenic —
RS61752410 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy
RS61752411 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61752415 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61752416 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61752417 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2
RS61752418 ABCA4 Health Risk Likely pathogenic —
RS61752419 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61752421 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS61752422 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS61752423 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS61752424 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61752425 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61752426 ABCA4 Health Risk Pathogenic —
RS61752427 ABCA4 Health Risk Pathogenic Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS61752428 ABCA4 Health Risk Pathogenic Retinal dystrophy, ABCA4-related retinopathy
RS61752430 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS61752431 ABCA4 Health Risk Pathogenic —
RS61752433 ABCA4 Health Risk Likely pathogenic —
RS61752434 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS61752435 ABCA4 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy
RS61752436 ABCA4 Health Risk Pathogenic —
RS61752438 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS61752439 ABCA4 Health Risk Pathogenic Retinal dystrophy, Stargardt disease
RS61752478 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS61752479 AMPD1 Health Risk Conflicting classifications of pathogenicity; other Muscle AMP deaminase deficiency, AMPD1-related disorder
RS61752485 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS61752503 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS61752717 MEFV Health Risk Pathogenic/Likely pathogenic Familial Mediterranean fever, autosomal dominant
RS61752721 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS61752722 MLH3 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Colorectal cancer
RS61752766 CYP11B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia, Glucocorticoid-remediable aldosteronism
RS61752784 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS61752786 CYP11B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase
RS61752794 CYP11B1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia, Deficiency of steroid 11-beta-monooxygenase
RS61752839 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS61752842 PCK2 Health Risk Conflicting classifications of pathogenicity Phosphoenolpyruvate carboxykinase deficiency, mitochondrial
RS61752865 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, RPE65-related recessive retinopathy
RS61752866 RPE65 Health Risk Pathogenic Leber congenital amaurosis 2, Leber congenital amaurosis
RS61752869 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS61752871 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS61752873 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
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