SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS1057516587 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1057516588 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516589 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1057516590 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1057516591 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS1057516593 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1057516594 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516595 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1057516596 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516597 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS1057516598 PYGM Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type V
RS1057516599 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516600 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS1057516601 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS1057516602 MCOLN1 Health Risk Pathogenic Mucolipidosis type IV, Mucolipidosis type IV
RS1057516603 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1057516604 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1057516605 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516606 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1057516607 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS1057516608 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516609 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1057516610 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1057516611 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057516612 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1057516613 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1D
RS1057516614 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516615 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516616 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS1057516617 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057516618 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1057516619 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS1057516620 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057516622 ALPL Health Risk Likely pathogenic Infantile hypophosphatasia, Infantile hypophosphatasia
RS1057516623 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516624 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1057516625 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057516626 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516627 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1057516628 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1057516629 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS1057516630 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1057516631 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1057516632 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057516633 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516634 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Pendred syndrome
RS1057516635 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1057516636 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS1057516637 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1057516638 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1057516639 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1057516640 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057516642 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057516643 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS1057516645 CBS Health Risk Pathogenic Classic homocystinuria, Classic homocystinuria
RS1057516646 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS1057516647 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1057516648 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1057516650 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1057516651 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516652 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516653 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516656 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Usher syndrome type 1F
RS1057516657 GNE Health Risk Pathogenic GNE myopathy, GNE myopathy
RS1057516658 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1057516660 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516661 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1057516662 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1057516663 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516664 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS1057516666 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1057516667 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS1057516668 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS1057516669 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS1057516670 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1057516671 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1057516672 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1057516673 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1057516674 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
RS1057516675 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Amelogenesis imperfecta type 1A
RS1057516676 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1057516677 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis
RS1057516678 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS1057516679 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1057516680 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS1057516681 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516682 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1057516683 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Gastric cancer
RS1057516684 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS1057516685 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS1057516686 ACADVL Health Risk Pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS1057516687 CLRN1 Health Risk Likely pathogenic Usher syndrome type 3A, Usher syndrome type 3A
RS1057516688 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516689 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Inborn genetic diseases
RS1057516690 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516691 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1057516692 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1057516693 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS1057516694 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1057516695 F11 Health Risk Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
« Prev 1 ... 46 47 48 49 50 51 52 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →