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
RS2534865414 PDE1C Health Risk Likely pathogenic Hearing loss, autosomal dominant 74
RS2534866114 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2534866242 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2534868328 KLHL7 Health Risk Likely pathogenic PERCHING syndrome, PERCHING syndrome
RS2534869708 KLHL7 Health Risk Pathogenic PERCHING syndrome, PERCHING syndrome
RS2534884314 COL11A2 Health Risk Likely pathogenic —
RS2534885536 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2534890516 COL11A2 Health Risk Likely pathogenic —
RS2534894263 COL11A2 Health Risk Likely pathogenic Otospondylomegaepiphyseal dysplasia, autosomal dominant
RS2534897071 EGFR Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Hereditary cancer-predisposing syndrome
RS2534898361 COL11A2 Health Risk Likely pathogenic —
RS2534899241 FBXL4 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS2534900959 TRDN Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2534906714 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534915969 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534916472 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534916491 COL11A2 Health Risk Pathogenic —
RS2534916582 COL11A2 Health Risk Pathogenic —
RS2534917103 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534925510 KLHL7 Health Risk Pathogenic/Likely pathogenic —
RS2534939945 COL11A2 Health Risk Pathogenic —
RS2534940448 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2534941119 COL11A2 Health Risk Pathogenic —
RS2534942977 KLHL7 Health Risk Likely pathogenic —
RS2534950585 MYO6 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 22, Autosomal dominant nonsyndromic hearing loss 22
RS2534951708 MYO6 Health Risk Pathogenic —
RS2534953372 COL11A2 Health Risk Pathogenic —
RS2534973457 GSDME Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 5, Autosomal dominant nonsyndromic hearing loss 5
RS2534977058 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2534977169 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534986391 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534986453 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2534986935 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2534990487 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534991105 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535000646 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2535008828 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535018649 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535021241 CARD11 Health Risk Pathogenic BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS2535026065 CARD11 Health Risk Pathogenic BENTA disease, Severe combined immunodeficiency due to CARD11 deficiency
RS2535027337 CLDN14 Health Risk Pathogenic —
RS2535030580 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2535042738 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535043136 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535043152 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535060477 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2535083418 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535092724 PCLO Health Risk Pathogenic —
RS2535094319 MYO6 Health Risk Pathogenic —
RS2535094469 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2535095740 GHRHR Health Risk Pathogenic —
RS2535095820 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2535095827 GHRHR Health Risk Pathogenic —
RS2535096116 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535096128 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS9-related disorder
RS2535098305 GHRHR Health Risk Pathogenic —
RS2535099086 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535099209 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535099288 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS2535099666 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535104530 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS2535107151 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535107319 COL11A2 Health Risk Pathogenic Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS2535107508 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535116914 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535119038 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535119185 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535127927 CARD11 Health Risk Pathogenic Immunodeficiency 11b with atopic dermatitis, Immunodeficiency 11b with atopic dermatitis
RS2535134459 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535136966 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS2535137725 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535140952 MYO6 Health Risk Pathogenic —
RS2535144155 COL11A2 Health Risk Pathogenic —
RS2535144987 FBXL4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2535146567 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS2535158272 PLOD3 Health Risk Likely pathogenic —
RS2535167499 PLOD3 Health Risk Pathogenic —
RS2535169770 PLOD3 Health Risk Likely pathogenic —
RS2535171366 PLOD3 Health Risk Pathogenic —
RS2535178516 PLOD3 Health Risk Likely pathogenic —
RS2535179077 PLOD3 Health Risk Pathogenic —
RS2535179412 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535179997 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535180472 PLOD3 Health Risk Pathogenic —
RS2535183568 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535184381 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2535184869 COL11A2 Health Risk Likely pathogenic —
RS2535187362 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2535188407 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS2535189943 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535193057 DDC Health Risk Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2535201698 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2535202007 COL11A2 Health Risk Pathogenic —
RS2535203418 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535203638 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2535203991 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535204408 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2535205469 CYCS Health Risk Likely pathogenic Thrombocytopenia 4, Thrombocytopenia 4
RS2535207021 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2535215694 HGF Health Risk Pathogenic —
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