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
RS2529174642 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2529175355 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2529175801 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2529177807 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529182214 EIF2AK3 Health Risk Likely pathogenic —
RS2529182222 EIF2AK3 Health Risk Pathogenic —
RS2529183133 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2529183146 EIF2AK3 Health Risk Likely pathogenic —
RS2529183675 ANO10 Health Risk Pathogenic —
RS2529189303 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2529196327 POGZ Health Risk Likely pathogenic —
RS2529198611 KIF15 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS2529200122 POGZ Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2529200620 POGZ Health Risk Likely pathogenic POGZ-related disorder, POGZ-related disorder
RS2529202364 POGZ Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2529202496 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529204910 POGZ Health Risk Likely pathogenic —
RS2529205949 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529206328 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529207868 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529209786 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529211919 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529217307 EIF2AK3 Health Risk Likely pathogenic —
RS2529217772 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529221153 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529221556 ACAD9 Health Risk Pathogenic —
RS2529221609 ACAD9 Health Risk Pathogenic —
RS2529221699 ACAD9 Health Risk Pathogenic —
RS2529222236 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529222907 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529223639 KIF15 Health Risk Likely pathogenic Braddock-carey syndrome 2, Braddock-carey syndrome 2
RS2529223791 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529225314 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2529232761 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529232783 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529239509 POGZ Health Risk Pathogenic Inborn genetic diseases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529243521 POGZ Health Risk Pathogenic —
RS2529245827 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529247930 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529248224 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529251580 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529255346 ACAD9 Health Risk Pathogenic —
RS2529257743 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529257814 ACAD9 Health Risk Pathogenic —
RS2529260563 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529261059 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529261830 ACAD9 Health Risk Likely pathogenic Mitochondrial complex I deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529261876 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529261899 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529261945 ACAD9 Health Risk Pathogenic —
RS2529262051 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529262095 ACAD9 Health Risk Pathogenic Mitochondrial complex I deficiency, Mitochondrial complex I deficiency
RS2529264807 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529266748 ACAD9 Health Risk Pathogenic —
RS2529266752 ACAD9 Health Risk Pathogenic —
RS2529269303 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529270114 ACAD9 Health Risk Pathogenic —
RS2529270204 ACAD9 Health Risk Likely pathogenic —
RS2529272943 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529272954 ACAD9 Health Risk Pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529272982 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529273135 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529273160 ACAD9 Health Risk Pathogenic —
RS2529275742 POGZ Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2529276766 ACAD9 Health Risk Likely pathogenic —
RS2529276805 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529277020 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529278072 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529278677 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529278964 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529279017 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529279053 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529279074 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529279176 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529279291 ACAD9 Health Risk Pathogenic —
RS2529279370 ACAD9 Health Risk Pathogenic —
RS2529279372 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529279380 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529279381 ACAD9 Health Risk Pathogenic —
RS2529280134 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529280379 ACAD9 Health Risk Likely pathogenic —
RS2529281136 POGZ Health Risk Pathogenic —
RS2529281582 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529281983 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS2529283141 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529283290 ACAD9 Health Risk Conflicting classifications of pathogenicity ACAD9-related disorder, ACAD9-related disorder
RS2529283339 ACAD9 Health Risk Likely pathogenic —
RS2529283676 ACAD9 Health Risk Likely pathogenic —
RS2529283911 ACAD9 Health Risk Likely pathogenic —
RS2529287334 ACAD9 Health Risk Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529287706 ACAD9 Health Risk Pathogenic —
RS2529287811 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2529288060 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529297088 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2529305655 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2529327701 ANO10 Health Risk Likely pathogenic —
RS2529329129 ANO10 Health Risk Likely pathogenic —
RS2529341702 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2529354074 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2529366737 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
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