SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS876660978 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS876660979 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS876660980 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS876660981 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS876660982 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS876660989 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS876660990 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS876660991 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS876660993 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Acute febrile neutrophilic dermatosis
RS876660995 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS876660996 MEFV Health Risk Conflicting classifications of pathogenicity Acute febrile neutrophilic dermatosis, Familial Mediterranean fever
RS876660997 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS876661007 LOC130004273;KLLN;PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS876661009 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS876661010 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS876661012 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS876661013 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS876661014 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS876661017 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS876661018 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS876661019 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS876661022 GRIN2B Health Risk Likely pathogenic —
RS876661023 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS876661024 PTEN Health Risk Pathogenic/Likely pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS876661025 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colon cancer
RS876661031 TNFRSF1A Health Risk Likely pathogenic —
RS876661032 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS876661033 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS876661035 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS876661036 ASPM Health Risk Pathogenic —
RS876661038 TAFAZZIN Health Risk Pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS876661041 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS876661042 PMS2 Health Risk Likely pathogenic —
RS876661043 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661044 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS876661045 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS876661050 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS876661055 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS876661056 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS876661058 PTEN Health Risk Pathogenic Cowden syndrome 1, PTEN hamartoma tumor syndrome
RS876661059 MLH1 Health Risk Pathogenic Colorectal cancer, hereditary nonpolyposis
RS876661060 PTEN Health Risk Pathogenic —
RS876661061 JAG1 Health Risk Pathogenic —
RS876661062 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS876661063 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS876661064 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS876661066 JAG1 Health Risk Pathogenic —
RS876661067 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661073 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS876661076 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS876661084 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS876661086 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS876661087 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661089 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS876661091 CDH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS876661095 JAG1 Health Risk Pathogenic —
RS876661096 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS876661098 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS876661102 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS876661106 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS876661107 CDH1 Health Risk Pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome, Hereditary cancer-predisposing syndrome
RS876661111 JAG1 Health Risk Pathogenic —
RS876661112 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS876661113 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS876661118 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS876661119 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS876661120 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Ovarian serous cystadenocarcinoma
RS876661121 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS876661122 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS876661123 JAG1 Health Risk Likely pathogenic —
RS876661124 TRPV4 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS876661125 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS876661126 JAG1 Health Risk Pathogenic —
RS876661130 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS876661133 CDH1 Health Risk Pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS876661134 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Porokeratosis 3
RS876661137 MSH6 Health Risk Conflicting classifications of pathogenicity —
RS876661140 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS876661141 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS876661142 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS876661143 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS876661144 FIG4 Health Risk Conflicting classifications of pathogenicity Cerebral hypomyelination, Charcot-Marie-Tooth disease type 4
RS876661145 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS876661150 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS876661151 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS876661153 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS876661154 ASPM Health Risk Pathogenic —
RS876661155 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
RS876661156 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS876661159 MLH1 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS876661165 JAG1 Health Risk Pathogenic —
RS876661167 GRIN2B Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 27
RS876661168 KIF1A Health Risk Likely pathogenic Intellectual disability, autosomal dominant 9
RS876661171 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS876661173 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS876661174 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS876661177 PTEN Health Risk Likely pathogenic —
RS876661179 MYH7 Health Risk Likely pathogenic —
RS876661180 KIF1A Health Risk Pathogenic —
RS876661182 JAG1 Health Risk Pathogenic —
« Prev 1 ... 3874 3875 3876 3877 3878 3879 3880 ... 4010 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →