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
RS137852518 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, Spastic paraplegia
RS137852519 L1CAM Health Risk Pathogenic MASA syndrome, MASA syndrome
RS137852520 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, Spastic paraplegia
RS137852521 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, L1 syndrome
RS137852522 L1CAM Health Risk Pathogenic/Likely pathogenic X-linked hydrocephalus syndrome, MASA syndrome
RS137852523 L1CAM Health Risk Pathogenic MASA syndrome, MASA syndrome
RS137852524 L1CAM Health Risk Pathogenic MASA syndrome, Spastic paraplegia
RS137852525 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, Spastic paraplegia
RS137852526 L1CAM Health Risk Pathogenic/Likely pathogenic X-linked complicated corpus callosum dysgenesis, X-linked hydrocephalus syndrome
RS137852527 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS137852528 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852529 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852531 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852532 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852533 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852535 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852536 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852537 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852538 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852539 PGK1 Health Risk Pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS137852540 PRPS1 Health Risk Likely pathogenic Phosphoribosylpyrophosphate synthetase superactivity, Inborn genetic diseases
RS137852541 PRPS1 Health Risk Likely pathogenic Phosphoribosylpyrophosphate synthetase superactivity, Arts syndrome
RS137852542 PRPS1 Health Risk Pathogenic Phosphoribosylpyrophosphate synthetase superactivity, Phosphoribosylpyrophosphate synthetase superactivity
RS137852543 PRPS1 Health Risk Pathogenic Phosphoribosylpyrophosphate synthetase superactivity, Phosphoribosylpyrophosphate synthetase superactivity
RS137852544 PRPS1 Health Risk Pathogenic Phosphoribosylpyrophosphate synthetase superactivity, Phosphoribosylpyrophosphate synthetase superactivity
RS137852545 PRPS1 Health Risk Pathogenic Phosphoribosylpyrophosphate synthetase superactivity, Phosphoribosylpyrophosphate synthetase superactivity
RS137852546 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Thyroid cancer
RS137852547 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS137852548 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS137852549 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS137852550 RPGR Health Risk Likely pathogenic RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS
RS137852551 RPGR Health Risk Pathogenic X-linked cone-rod dystrophy 1, X-linked cone-rod dystrophy 1
RS137852552 SHOX Health Risk Pathogenic SHOX-related short stature, Leri-Weill dyschondrosteosis
RS137852553 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS137852554 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS137852555 SHOX Health Risk Likely pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS137852556 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, SHOX-related disorder
RS137852557 SHOX Health Risk Pathogenic/Likely pathogenic Langer mesomelic dysplasia syndrome, Leri-Weill dyschondrosteosis
RS137852558 SHOX Health Risk Pathogenic Leri-Weill dyschondrosteosis, Leri-Weill dyschondrosteosis
RS137852560 SYN1 Health Risk Pathogenic Epilepsy, X-linked 1
RS137852561 SYP Health Risk Pathogenic Intellectual disability, X-linked 96
RS137852562 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS137852563 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852564 AR Health Risk Pathogenic Androgen resistance syndrome, Prostate cancer
RS137852565 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS137852566 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852567 AR Health Risk Pathogenic Partial androgen insensitivity syndrome, Partial androgen insensitivity syndrome
RS137852568 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852569 AR Health Risk Pathogenic Partial androgen insensitivity syndrome, Kennedy disease
RS137852570 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852571 AR Health Risk Conflicting classifications of pathogenicity Prostate cancer, somatic
RS137852572 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS137852573 AR Health Risk Pathogenic/Likely pathogenic Partial androgen insensitivity syndrome, Androgen resistance syndrome
RS137852574 AR Health Risk Pathogenic Hypospadias 1, X-linked
RS137852575 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852576 AR Health Risk Pathogenic Androgen insensitivity, partial
RS137852577 AR Health Risk Pathogenic Partial androgen insensitivity syndrome, Androgen resistance syndrome
RS137852578 AR Health Risk Pathogenic Prostate cancer, somatic
RS137852579 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852580 AR Health Risk Pathogenic Prostate cancer, somatic
RS137852581 AR Health Risk Pathogenic Prostate cancer, somatic
RS137852582 AR Health Risk Pathogenic Prostate cancer, somatic
RS137852584 AR Health Risk Pathogenic Prostate cancer, somatic
RS137852585 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852586 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852587 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852589 AR Health Risk Pathogenic/Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852590 AR Health Risk Pathogenic Partial androgen insensitivity syndrome, Partial androgen insensitivity syndrome
RS137852591 AR Health Risk Conflicting classifications of pathogenicity Partial androgen insensitivity syndrome, Kennedy disease
RS137852592 AR Health Risk Pathogenic/Likely pathogenic Partial androgen insensitivity syndrome, Kennedy disease
RS137852593 AR Health Risk Conflicting classifications of pathogenicity Prostate cancer susceptibility, Prostate cancer
RS137852594 AR Health Risk Pathogenic Androgen resistance syndrome, Kennedy disease
RS137852595 AR Health Risk Likely pathogenic Androgen resistance syndrome, Kennedy disease
RS137852596 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852597 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852598 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852599 AR Health Risk Pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS137852600 AR Health Risk Pathogenic Partial androgen insensitivity syndrome, Androgen resistance syndrome
RS137852601 AR Health Risk Pathogenic/Likely pathogenic Partial androgen insensitivity syndrome, Androgen resistance syndrome
RS137852602 CIITA Health Risk Pathogenic MHC class II deficiency 1, MHC class II deficiency 1
RS137852603 MXI1 Health Risk Pathogenic Prostate cancer, Prostate cancer
RS137852604 MXI1 Health Risk Pathogenic Neurofibrosarcoma, Neurofibrosarcoma
RS137852605 LBR Health Risk Conflicting classifications of pathogenicity Pelger-Huët anomaly, Pelger-Huët anomaly
RS137852606 LBR Health Risk Pathogenic Pelger-Huët anomaly, Pelger-Huët anomaly
RS137852607 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS137852608 CNGA3 Health Risk Pathogenic Achromatopsia 2, Retinal dystrophy
RS137852609 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, ITGB2-related disorder
RS137852610 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS137852611 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS137852612 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS137852613 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS137852614 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS137852615 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS137852616 ITGB2 Health Risk Pathogenic/Likely pathogenic Leukocyte adhesion deficiency 1, Inborn genetic diseases
RS137852617 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS137852618 ITGB2 Health Risk Pathogenic/Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS137852619 SLC1A3 Health Risk Pathogenic Episodic ataxia type 6, Episodic ataxia type 6
RS137852620 SLC1A3 Health Risk Pathogenic Episodic ataxia type 6, Episodic ataxia type 6
RS137852621 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy
RS137852622 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
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