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
RS2535392949 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535393241 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535394735 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535394998 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535395073 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535397538 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535400917 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535401325 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535401475 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535401580 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535402021 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535403044 SAMD9L Health Risk Likely pathogenic —
RS2535404377 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535407087 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2535408384 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2535408940 LAMB1 Health Risk Pathogenic —
RS2535408971 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535409791 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535411057 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535411225 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535412179 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535412257 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535412345 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2535412438 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535412896 SAMD9L Health Risk Conflicting classifications of pathogenicity Ataxia-pancytopenia syndrome, Ataxia-pancytopenia syndrome
RS2535413569 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535414492 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535415169 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535421216 SAMD9L Health Risk Likely pathogenic —
RS2535422664 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2535423064 SAMD9L Health Risk Likely pathogenic SAMD9L-related disorder, SAMD9L-related disorder
RS2535424504 COL11A2 Health Risk Pathogenic —
RS2535428137 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2535434029 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535434198 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535438169 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2535439545 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2535440714 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2535448305 LAMB1 Health Risk Pathogenic —
RS2535448587 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2535451617 SLC26A3 Health Risk Pathogenic —
RS2535454664 SLC26A3 Health Risk Pathogenic —
RS2535454681 SLC26A3 Health Risk Pathogenic —
RS2535454710 SLC26A3 Health Risk Pathogenic —
RS2535454764 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS2535456352 SLC26A3 Health Risk Pathogenic SLC26A3-related disorder, SLC26A3-related disorder
RS2535456378 SLC26A3 Health Risk Pathogenic/Likely pathogenic Congenital secretory diarrhea, chloride type
RS2535458383 SLC26A3 Health Risk Pathogenic —
RS2535458490 SLC26A3 Health Risk Pathogenic —
RS2535462703 SLC26A3 Health Risk Pathogenic —
RS2535462796 SLC26A3 Health Risk Likely pathogenic —
RS2535463162 SLC26A3 Health Risk Likely pathogenic —
RS2535463398 SLC26A3 Health Risk Pathogenic —
RS2535463519 SLC26A3 Health Risk Pathogenic —
RS2535463622 SLC26A3 Health Risk Likely pathogenic —
RS2535463696 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, DNAH11-related disorder
RS2535464064 DNAH11 Health Risk Pathogenic DNAH11-related disorder, DNAH11-related disorder
RS2535464638 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535465944 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2535467029 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2535467680 SLC26A3 Health Risk Likely pathogenic —
RS2535468195 SLC26A3 Health Risk Pathogenic —
RS2535468277 SLC26A3 Health Risk Pathogenic —
RS2535468435 SLC26A3 Health Risk Likely pathogenic —
RS2535470241 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535470506 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535470681 DNAH11 Health Risk Likely pathogenic DNAH11-related disorder, DNAH11-related disorder
RS2535471250 SLC26A3 Health Risk Likely pathogenic Congenital secretory diarrhea, chloride type
RS2535471415 SLC26A3 Health Risk Pathogenic —
RS2535472743 DDC Health Risk Pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, Deficiency of aromatic-L-amino-acid decarboxylase
RS2535474589 SLC26A3 Health Risk Likely pathogenic —
RS2535474668 SLC26A3 Health Risk Pathogenic —
RS2535477061 SLC26A3 Health Risk Pathogenic —
RS2535478074 SLC26A3 Health Risk Pathogenic —
RS2535478160 SLC26A3 Health Risk Pathogenic —
RS2535478180 SLC26A3 Health Risk Pathogenic/Likely pathogenic Congenital secretory diarrhea, chloride type
RS2535480477 LAMB1 Health Risk Pathogenic Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS2535480497 LAMB1 Health Risk Pathogenic —
RS2535485381 LAMB1 Health Risk Pathogenic —
RS2535492454 MYO6 Health Risk Pathogenic —
RS2535492696 LAMB1 Health Risk Likely pathogenic Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS2535494860 MYO6 Health Risk Likely pathogenic —
RS2535495055 MYO6 Health Risk Pathogenic —
RS2535499036 EGFR Health Risk Likely pathogenic Lung adenocarcinoma, Lung adenocarcinoma
RS2535501445 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535503276 COL11A2 Health Risk Pathogenic —
RS2535505726 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535505828 COL11A2 Health Risk Pathogenic —
RS2535506167 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535507289 EGFR Health Risk Pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS2535507304 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535508674 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2535508959 PCLO Health Risk Likely pathogenic —
RS2535510209 MYO6 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 37, Autosomal recessive nonsyndromic hearing loss 37
RS2535514417 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535516075 KRIT1 Health Risk Likely pathogenic —
RS2535517960 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535518473 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535518733 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2535518758 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
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