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
RS1555516716 CDK10 Health Risk Likely pathogenic Al Kaissi syndrome, Al Kaissi syndrome
RS1555516821 CDH1 Health Risk Pathogenic CDH1-related diffuse gastric and lobular breast cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555516844 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1555516892 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555516894 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555516896 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555516994 ATP2A1 Health Risk Pathogenic/Likely pathogenic Brody myopathy, Brody myopathy
RS1555517074 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555517080 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555517084 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555517100 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555517136 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555517153 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555517253 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555517632 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555517633 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555517644 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555517680 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555517684 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1555517817 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555517889 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555518209 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555518210 CDH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555518211 CDH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555518221 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1555518239 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1555518481 HSD11B2 Health Risk Conflicting classifications of pathogenicity Apparent mineralocorticoid excess, HSD11B2-related disorder
RS1555518716 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1555518824 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555519050 ZNF469 Health Risk Pathogenic/Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1555519354 ZNF469 Health Risk Pathogenic —
RS1555519999 DNAAF1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1555520142 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Retinal dystrophy
RS1555520212 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1555520220 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1555520256 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1555520991 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555521379 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 2, Retinal dystrophy
RS1555521489 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1555521501 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1555521779 ANKRD11 Health Risk Likely pathogenic —
RS1555521799 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS1555522000 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1555522077 DLG4 Health Risk Pathogenic —
RS1555522252 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1555522893 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1555522983 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555522997 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555523386 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1555523398 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, BBS2-related ciliopathy
RS1555523411 GALNS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucopolysaccharidosis
RS1555523429 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555523438 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555523535 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555523580 ANKRD11 Health Risk Pathogenic —
RS1555523584 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS1555523630 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555523841 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS1555523964 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1555524130 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555524354 TP53 Health Risk Pathogenic Diamond-Blackfan anemia, Bone marrow failure syndrome 5
RS1555524370 TP53 Health Risk Pathogenic/Likely pathogenic Diamond-Blackfan anemia, Bone marrow failure syndrome 5
RS1555524382 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555524394 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555524406 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555524593 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1555524784 ANKRD11 Health Risk Pathogenic KBG syndrome, EBV-positive nodal T- and NK-cell lymphoma
RS1555524788 LAT Health Risk Pathogenic Severe combined immunodeficiency due to LAT deficiency, Severe combined immunodeficiency due to LAT deficiency
RS1555524842 RFWD3 Health Risk Pathogenic Fanconi anemia, complementation group W
RS1555524861 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, KBG syndrome
RS1555524870 ANKRD11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555524879 MYH3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555524942 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555524949 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555524970 TP53 Health Risk Likely pathogenic —
RS1555524975 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS1555524976 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555524979 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525007 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525012 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525040 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525054 TP53 Health Risk Pathogenic —
RS1555525067 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555525088 ANKRD11 Health Risk Pathogenic/Likely pathogenic KBG syndrome, Intellectual disability
RS1555525115 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1555525126 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1555525140 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555525154 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525156 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555525158 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555525170 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555525209 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS1555525215 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555525226 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555525248 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525279 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ovarian neoplasm
RS1555525296 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1555525344 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555525367 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1555525425 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
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