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
RS1555138791 KMT2A Health Risk Conflicting classifications of pathogenicity —
RS1555139310 ARID2 Health Risk Pathogenic Coffin-Siris syndrome 6, Coffin-Siris syndrome 6
RS1555139372 NCAPD3 Health Risk Pathogenic Microcephaly 22, primary
RS1555139443 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1555139447 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555139467 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555139694 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Malignant tumor of breast
RS1555139812 LRRC23 Health Risk Pathogenic Spermatogenic failure 92, Spermatogenic failure 92
RS1555140707 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS1555141020 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1555141158 GAPDH;NCAPD2 Health Risk Pathogenic Microcephaly 21, primary
RS1555141265 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS1555142142 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome, Congenital myasthenic syndrome 11
RS1555142603 RAPSN Health Risk Pathogenic Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS1555142794 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555142816 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555142845 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555142907 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1555142918 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555142963 PKP2 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Cardiovascular phenotype
RS1555142971 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS1555142984 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS1555142994 PKP2 Health Risk Pathogenic/Likely pathogenic Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular cardiomyopathy
RS1555143127 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1555143134 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1555143143 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1555143325 NCAPD3 Health Risk Pathogenic Microcephaly 22, primary
RS1555143494 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555143538 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555143620 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
RS1555143623 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555143639 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS1555143796 ATN1 Health Risk Conflicting classifications of pathogenicity —
RS1555143920 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1555144357 ATN1 Health Risk Pathogenic Congenital ATN1 related disorder, Congenital hypotonia
RS1555144358 ATN1 Health Risk Pathogenic Congenital ATN1 related disorder, Congenital hypotonia
RS1555144360 ATN1 Health Risk Pathogenic Congenital ATN1 related disorder, Congenital ATN1 related disorder
RS1555144459 PKP2 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1555144478 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1555144911 ETV6 Health Risk Pathogenic/Likely pathogenic Thrombocytopenia 5, Thrombocytopenia 5
RS1555145509 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1555145520 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS1555145521 PKP2 Health Risk Pathogenic —
RS1555145550 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555145605 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555145614 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555145619 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555145646 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555145859 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555145862 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555145867 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555145874 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555145877 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555146021 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555146023 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555146046 C12orf57 Health Risk Pathogenic Temtamy syndrome, Temtamy syndrome
RS1555146061 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555146475 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555146618 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1555147210 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1555148011 PKP2 Health Risk Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1555148032 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1555148035 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS1555148048 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular dysplasia 9
RS1555148090 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1555148259 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1555148271 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
RS1555148625 ARID2 Health Risk Pathogenic —
RS1555149952 PKP2 Health Risk Pathogenic/Likely pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1555149975 PKP2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS1555151205 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555151315 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555151395 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555151422 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555151737 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555151804 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555151827 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555151854 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555151928 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555151979 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555152009 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Malignant tumor of urinary bladder
RS1555152058 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555152080 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555152193 ARID2 Health Risk Likely pathogenic —
RS1555152246 ARID2 Health Risk Pathogenic —
RS1555152345 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1555152440 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS1555152447 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1555152454 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1555152455 ACVRL1 Health Risk Pathogenic Cardiovascular phenotype, Telangiectasia
RS1555152468 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1555152520 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1555152526 ACVRL1 Health Risk Pathogenic —
RS1555152548 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1555152650 ACVRL1 Health Risk Pathogenic —
RS1555152710 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1555152771 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1555152774 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1555152786 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1555152790 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
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