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
RS2470330299 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470330946 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470331077 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470332409 TTN Health Risk Pathogenic TTN-related disorder, TTN-related disorder
RS2470337831 FZD5 Health Risk Pathogenic Microphthalmia/coloboma 11, Microphthalmia/coloboma 11
RS2470337909 FZD5 Health Risk Pathogenic Microphthalmia/coloboma 11, Microphthalmia/coloboma 11
RS2470338599 RAF1 Health Risk Likely pathogenic Noonan syndrome, Noonan syndrome
RS2470339052 FZD5 Health Risk Pathogenic Microphthalmia/coloboma 11, Microphthalmia/coloboma 11
RS2470339440 FZD5 Health Risk Pathogenic Microphthalmia/coloboma 11, Microphthalmia/coloboma 11
RS2470347591 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470347675 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470347864 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470351343 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470377269 TRIP12 Health Risk Likely pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2470384677 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470386291 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470387049 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470388671 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470392398 TTN Health Risk Likely pathogenic TTN-related disorder, Dilated cardiomyopathy 1G
RS2470392910 SATB1 Health Risk Likely pathogenic Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
RS2470394817 SATB1 Health Risk Likely pathogenic Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
RS2470406584 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS2470408475 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470410097 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470410679 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470411016 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470411842 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470418264 STAT1 Health Risk Pathogenic —
RS2470424115 TTN Health Risk Likely pathogenic —
RS2470424243 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470430025 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2470432266 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470435116 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470442713 ATP2B2 Health Risk Pathogenic —
RS2470453245 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470465165 STAT1 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470465465 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470465594 STAT1 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2470466154 STAT1 Health Risk Pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2470469526 TTN Health Risk Likely pathogenic —
RS2470469852 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS2470477597 STAT1 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS2470478564 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470480014 CRELD1 Health Risk Pathogenic Congenital heart defects, multiple types
RS2470481101 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470481119 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470481181 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470481702 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470481718 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470483012 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470484175 STAT1 Health Risk Likely pathogenic STAT1-related disorder, STAT1-related disorder
RS2470484242 STAT1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS2470484324 STAT1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS2470492433 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470493165 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470494120 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470498291 ATP2B2 Health Risk Likely pathogenic Hearing loss, autosomal dominant 82
RS2470501907 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470507548 FN1 Health Risk Likely pathogenic Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type
RS2470508449 CRELD1 Health Risk Pathogenic Ventricular septal defect 1, Ventricular septal defect 1
RS2470508564 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2470509797 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470510112 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS2470510113 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470511116 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470511151 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470513891 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2470522008 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470522609 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470523865 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470526475 STAT1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS2470526970 ATP2B2 Health Risk Likely pathogenic —
RS2470533091 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2470535952 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation 1
RS2470536051 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470536930 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470536986 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2470539974 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470540147 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470542595 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470545322 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470545999 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2470546043 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2470551499 SLC25A38 Health Risk Likely pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2470552567 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation 1
RS2470552807 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470552983 SLC19A3 Health Risk Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470553060 SLC19A3 Health Risk Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470553127 NGLY1 Health Risk Pathogenic —
RS2470553502 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS2470553648 NGLY1 Health Risk Likely pathogenic Congenital disorder of deglycosylation 1, Congenital disorder of deglycosylation 1
RS2470555117 SLC19A3 Health Risk Pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS2470561322 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1A, Dilated cardiomyopathy 1A
RS2470562327 SLC25A38 Health Risk Likely pathogenic Sideroblastic anemia 2, Sideroblastic anemia 2
RS2470562867 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS2470563136 TGFBR2 Health Risk Likely pathogenic —
RS2470564348 TGFBR2 Health Risk Likely pathogenic Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS2470565369 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
RS2470565458 STAT1 Health Risk Likely pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS2470568337 TGFBR2 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, TGFBR2-related disorder
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