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
RS587783039 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587783040 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587783041 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS587783042 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587783043 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS587783047 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS587783048 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS587783049 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS587783050 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS587783053 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS587783055 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS587783056 MSH6 Health Risk Pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS587783057 MUTYH Health Risk Pathogenic Carcinoma of colon, Familial adenomatous polyposis 2
RS587783060 SMAD4 Health Risk Pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS587783062 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS587783064 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS587783070 IARS2 Health Risk Conflicting classifications of pathogenicity Peripheral neuropathy, Cataract
RS587783071 CDKL5 Health Risk Likely pathogenic —
RS587783072 CDKL5 Health Risk Conflicting classifications of pathogenicity Atypical Rett syndrome, CDKL5 disorder
RS587783073 CDKL5 Health Risk Pathogenic CDKL5 disorder, CDKL5 disorder
RS587783074 CDKL5 Health Risk Pathogenic —
RS587783075 CDKL5 Health Risk Pathogenic —
RS587783077 CDKL5 Health Risk Pathogenic CDKL5 disorder, CDKL5 disorder
RS587783078 CDKL5 Health Risk Pathogenic —
RS587783080 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS587783081 CDKL5 Health Risk Pathogenic —
RS587783083 CDKL5 Health Risk Pathogenic —
RS587783084 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS587783085 CDKL5 Health Risk Pathogenic —
RS587783086 CDKL5 Health Risk Pathogenic —
RS587783087 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS587783088 CDKL5 Health Risk Likely pathogenic —
RS587783089 CDKL5 Health Risk Pathogenic —
RS587783091 MECP2 Health Risk Pathogenic —
RS587783092 MECP2 Health Risk Pathogenic Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS587783095 MECP2 Health Risk Pathogenic —
RS587783096 ARX Health Risk Pathogenic —
RS587783097 UBE3A Health Risk Likely pathogenic Angelman syndrome, See cases
RS587783109 CDKL5 Health Risk Pathogenic —
RS587783110 CDKL5 Health Risk Pathogenic —
RS587783111 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS587783112 CDKL5 Health Risk Pathogenic —
RS587783113 CDKL5 Health Risk Pathogenic —
RS587783115 CDKL5 Health Risk Pathogenic/Likely pathogenic CDKL5 disorder, Developmental and epileptic encephalopathy
RS587783116 CDKL5 Health Risk Pathogenic —
RS587783117 CDKL5 Health Risk Pathogenic —
RS587783118 CDKL5 Health Risk Pathogenic —
RS587783119 CDKL5 Health Risk Pathogenic —
RS587783120 CDKL5 Health Risk Pathogenic —
RS587783121 CDKL5 Health Risk Pathogenic —
RS587783123 CDKL5 Health Risk Pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS587783124 CDKL5 Health Risk Pathogenic CDKL5-related disorder, CDKL5-related disorder
RS587783125 CDKL5 Health Risk Pathogenic —
RS587783126 CDKL5 Health Risk Pathogenic —
RS587783130 CDKL5 Health Risk Pathogenic —
RS587783131 CDKL5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 2
RS587783132 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Rett syndrome
RS587783136 MECP2 Health Risk Pathogenic —
RS587783141 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS587783145 CDKL5 Health Risk Pathogenic —
RS587783149 CDKL5 Health Risk Likely pathogenic Angelman syndrome-like, Developmental and epileptic encephalopathy
RS587783151 CDKL5 Health Risk Pathogenic —
RS587783153 CDKL5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 2
RS587783155 CDKL5 Health Risk Pathogenic —
RS587783158 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS587783159 CDKL5 Health Risk Pathogenic Thyroid cancer, nonmedullary
RS587783169 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS587783171 ABCC8 Health Risk Pathogenic —
RS587783179 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Spastic paraplegia
RS587783182 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS587783183 ARX Health Risk Likely pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS587783184 ARX Health Risk Likely pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS587783185 ARX Health Risk Conflicting classifications of pathogenicity epileptic encephalopathy, early infanitle
RS587783187 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS587783189 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS587783191 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS587783192 ARX Health Risk Pathogenic epileptic encephalopathy, early infanitle
RS587783193 ARX Health Risk Pathogenic —
RS587783194 ARX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS587783195 ARX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS587783196 ARX Health Risk Conflicting classifications of pathogenicity epileptic encephalopathy, early infanitle
RS587783199 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS587783200 ARX Health Risk Pathogenic epileptic encephalopathy, early infanitle
RS587783202 ARX Health Risk Pathogenic X-linked lissencephaly with abnormal genitalia, X-linked lissencephaly with abnormal genitalia
RS587783203 ARX Health Risk Conflicting classifications of pathogenicity epileptic encephalopathy, early infanitle
RS587783204 ARX Health Risk Conflicting classifications of pathogenicity epileptic encephalopathy, early infanitle
RS587783211 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783215 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783216 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783218 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS587783220 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783221 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783224 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS587783225 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS587783227 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783228 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783230 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783238 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS587783239 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS587783240 ASPM Health Risk Pathogenic Microcephaly 5, primary
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