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
RS2545492865 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545492904 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545492910 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545493995 ABCB11 Health Risk Pathogenic —
RS2545494283 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2545501546 TMEM165 Health Risk Pathogenic TMEM165-congenital disorder of glycosylation, TMEM165-congenital disorder of glycosylation
RS2545508940 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545516405 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2545516986 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2545518838 TLK2 Health Risk Likely pathogenic —
RS2545519137 SETD2 Health Risk Likely pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2545536411 ADGRG1 Health Risk Pathogenic —
RS2545542261 FOXP1 Health Risk Pathogenic —
RS2545542981 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545543007 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS2545543509 FOXP1 Health Risk Pathogenic FOXP1-related disorder, FOXP1-related disorder
RS2545548503 CFI Health Risk Pathogenic —
RS2545554447 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545554653 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545554704 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2545574096 TRIM37 Health Risk Likely pathogenic —
RS2545574847 CACNA1G Health Risk Likely pathogenic Spinocerebellar ataxia 42, early-onset
RS2545574866 CACNA1G Health Risk Likely pathogenic Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42
RS2545576663 LRIT3 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS2545584268 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545584373 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545594181 TOP3A Health Risk Pathogenic —
RS2545600554 TRIM37 Health Risk Pathogenic —
RS2545606322 TRIM37 Health Risk Pathogenic —
RS2545606715 TOP3A Health Risk Pathogenic —
RS2545606953 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545607420 SETD2 Health Risk Likely pathogenic —
RS2545609940 TOP3A Health Risk Pathogenic —
RS2545618993 TOP3A Health Risk Pathogenic —
RS2545622367 TOP3A Health Risk Likely pathogenic —
RS2545625859 TOP3A Health Risk Likely pathogenic —
RS2545626859 SETD2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2545627174 GEN1 Health Risk Conflicting classifications of pathogenicity —
RS2545631303 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2545633212 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545634062 TLK2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 57
RS2545634068 ROBO1 Health Risk Pathogenic —
RS2545634597 TRIM37 Health Risk Likely pathogenic Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS2545635749 TRIM37 Health Risk Pathogenic —
RS2545639161 LRP2 Health Risk Pathogenic —
RS2545640830 SETD2 Health Risk Likely pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2545642461 LRP2 Health Risk Pathogenic —
RS2545644526 LRP2 Health Risk Pathogenic —
RS2545645314 LRP2 Health Risk Pathogenic —
RS2545648723 SETD2 Health Risk Likely pathogenic SETD2-related disorder, SETD2-related disorder
RS2545651806 KLHL24 Health Risk Pathogenic Cardiomyopathy, familial hypertrophic
RS2545653924 LRP2 Health Risk Pathogenic —
RS2545660610 LRP2 Health Risk Likely pathogenic —
RS2545660709 LRP2 Health Risk Pathogenic —
RS2545661006 LRP2 Health Risk Pathogenic —
RS2545662505 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Intellectual developmental disorder
RS2545663203 LRP2 Health Risk Likely pathogenic —
RS2545663250 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2545663742 LRP2 Health Risk Pathogenic —
RS2545668182 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545668446 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545668456 DYSF Health Risk Pathogenic/Likely pathogenic Distal myopathy with anterior tibial onset, Miyoshi muscular dystrophy 1
RS2545668712 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2545668961 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545669126 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545671972 LRP2 Health Risk Pathogenic —
RS2545673204 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545673510 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545673631 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545673738 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545673744 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545673821 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS2545674533 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545674586 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545674741 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545674772 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545674815 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545675638 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545675665 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545675679 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545675698 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545675846 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545676119 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545676752 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545677022 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545677218 LRP2 Health Risk Pathogenic —
RS2545677389 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545677398 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545677417 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545682324 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545682548 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545682776 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545683255 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545684869 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545684982 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545685014 MPL Health Risk Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Congenital amegakaryocytic thrombocytopenia
RS2545685225 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2545685563 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS2545686042 MPL Health Risk Pathogenic Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS2545686090 MPL Health Risk Likely pathogenic —
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