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
RS104894563 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS104894565 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS104894566 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS104894567 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS104894568 G6PC1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS104894569 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS104894571 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
RS104894572 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS104894574 HCRT Health Risk Pathogenic Narcolepsy 1, Narcolepsy 1
RS104894575 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Congenital long QT syndrome
RS104894576 GALK1 Health Risk Conflicting classifications of pathogenicity Deficiency of galactokinase, Deficiency of galactokinase
RS104894577 GALK1 Health Risk Pathogenic Deficiency of galactokinase, Deficiency of galactokinase
RS104894578 KCNJ2 Health Risk Pathogenic/Likely pathogenic Andersen Tawil syndrome, Congenital long QT syndrome
RS104894579 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Congenital long QT syndrome
RS104894580 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Congenital long QT syndrome
RS104894581 KCNJ2 Health Risk Likely pathogenic Congenital long QT syndrome, Andersen Tawil syndrome
RS104894582 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Congenital long QT syndrome
RS104894583 KCNJ2 Health Risk Likely pathogenic Andersen Tawil syndrome, Congenital long QT syndrome
RS104894584 KCNJ2 Health Risk Pathogenic Short QT syndrome type 3, Short QT syndrome
RS104894585 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Congenital long QT syndrome
RS104894586 MPDU1 Health Risk Conflicting classifications of pathogenicity MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS104894587 MPDU1 Health Risk Pathogenic MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS104894588 MPDU1 Health Risk Pathogenic MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS104894589 MPDU1 Health Risk Pathogenic MPDU1-congenital disorder of glycosylation, MPDU1-congenital disorder of glycosylation
RS104894590 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS104894591 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS104894592 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS104894593 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS104894594 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS104894595 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS104894596 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS104894597 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS104894598 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS104894599 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS104894600 NAGLU Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS104894601 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS104894602 NOG Health Risk Pathogenic/Likely pathogenic Proximal symphalangism 1A, Tarsal-carpal coalition syndrome
RS104894603 NOG Health Risk Pathogenic Symphalangism-brachydactyly syndrome, Symphalangism-brachydactyly syndrome
RS104894604 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS104894605 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS104894606 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS104894607 NAGS Health Risk Pathogenic Hyperammonemia, type III
RS104894608 NOG Health Risk Pathogenic Proximal symphalangism 1A, Proximal symphalangism 1A
RS104894609 NOG Health Risk Pathogenic Proximal symphalangism 1A, Proximal symphalangism 1A
RS104894610 NOG Health Risk Conflicting classifications of pathogenicity Tarsal-carpal coalition syndrome, Tarsal-carpal coalition syndrome
RS104894611 NOG Health Risk Pathogenic/Likely pathogenic Tarsal-carpal coalition syndrome, Proximal symphalangism 1A
RS104894612 NOG Health Risk Pathogenic Proximal symphalangism 1A, Proximal symphalangism 1A
RS104894613 NOG Health Risk Pathogenic Proximal symphalangism 1A, Proximal symphalangism 1A
RS104894614 NOG Health Risk Pathogenic Stapes ankylosis with broad thumbs and toes, Stapes ankylosis with broad thumbs and toes
RS104894615 NOG Health Risk Likely pathogenic Symphalangism-brachydactyly syndrome, Inborn genetic diseases
RS104894616 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS104894617 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type IA
RS104894618 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type IA
RS104894619 PMP22 Health Risk Conflicting classifications of pathogenicity Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease
RS104894620 PMP22 Health Risk Likely pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
RS104894621 PMP22 Health Risk Pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
RS104894622 PMP22 Health Risk Pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
RS104894623 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease
RS104894624 PMP22 Health Risk Pathogenic/Likely pathogenic DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT
RS104894625 PMP22 Health Risk Pathogenic Hereditary liability to pressure palsies, Charcot-Marie-Tooth disease
RS104894626 PMP22 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 1E, Charcot-Marie-Tooth disease
RS104894627 PMP22 Health Risk Pathogenic Charcot-Marie-Tooth disease, type 1a
RS104894629 PNPO Health Risk Pathogenic/Likely pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS104894630 SCO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 4
RS104894631 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS104894632 POLG2 Health Risk Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
RS104894634 RAI1 Health Risk Pathogenic Smith-Magenis syndrome, Smith-Magenis syndrome
RS104894635 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS104894636 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS104894637 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS104894638 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS104894639 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS104894640 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS104894641 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS104894642 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS104894643 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS104894644 SOST Health Risk Pathogenic Sclerosteosis 1, Sclerosteosis 1
RS104894645 SOST Health Risk Pathogenic Sclerosteosis 1, Sclerosteosis 1
RS104894647 SOX9 Health Risk Pathogenic ACAMPOMELIC CAMPOMELIC DYSPLASIA, Camptomelic dysplasia
RS104894648 TBX4 Health Risk Pathogenic Coxopodopatellar syndrome, Coxopodopatellar syndrome
RS104894649 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS104894650 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS104894651 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS104894652 USH1G Health Risk Pathogenic Usher syndrome type 1G, Usher syndrome type 1G
RS104894653 WNT3 Health Risk Pathogenic Tetraamelia syndrome 1, Tetraamelia syndrome 1
RS104894655 TCAP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25
RS104894656 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS104894657 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS104894658 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid Deficiency
RS104894659 MC2R Health Risk Likely pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS104894660 MC2R Health Risk Pathogenic/Likely pathogenic Glucocorticoid deficiency 1, Glucocorticoid Deficiency
RS104894661 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS104894662 MC2R Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS104894663 RAX Health Risk Pathogenic Isolated microphthalmia 3, Isolated microphthalmia 3
RS104894664 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS104894665 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS104894666 AMH Health Risk Pathogenic Persistent mullerian duct syndrome, type I
RS104894667 CFD Health Risk Pathogenic Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency
RS104894671 CRX Health Risk Pathogenic Cone-rod dystrophy 2, Leber congenital amaurosis 7
RS104894672 CRX Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy 2, Retinal dystrophy
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