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
RS2535319425 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535319486 SLC26A4 Health Risk Pathogenic —
RS2535319546 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535320896 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535321025 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535324144 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535324169 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6
RS2535324618 DST Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2535324981 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2535325754 PCLO Health Risk Pathogenic —
RS2535326385 PMS2 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2535326440 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535326455 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535326575 SLC26A4 Health Risk Pathogenic —
RS2535327387 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535327391 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535327444 SLC26A4 Health Risk Pathogenic —
RS2535327495 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535328206 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2535328278 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2535328515 BBS9 Health Risk Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS2535328806 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2535329349 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535329463 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535329575 SLC26A4 Health Risk Pathogenic —
RS2535329809 COL11A2 Health Risk Pathogenic —
RS2535331517 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535331758 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535332090 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535332434 SLC26A4 Health Risk Likely pathogenic —
RS2535332435 SLC26A4 Health Risk Pathogenic —
RS2535332449 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535332468 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS2535332546 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2535332598 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS2535332621 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535333011 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS2535333218 PCLO Health Risk Pathogenic —
RS2535333332 PCLO Health Risk Pathogenic —
RS2535333500 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2535335265 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535335393 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535335453 SLC26A4 Health Risk Pathogenic Pendred syndrome, Pendred syndrome
RS2535335554 EYA4 Health Risk Pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS2535336810 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535336971 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535338130 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535338139 SLC26A4 Health Risk Pathogenic —
RS2535338327 SLC26A4 Health Risk Pathogenic —
RS2535338363 SLC26A4 Health Risk Likely pathogenic —
RS2535338422 DST Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2535338424 SLC26A4 Health Risk Pathogenic —
RS2535338443 SLC26A4 Health Risk Pathogenic —
RS2535340015 EYA4 Health Risk Pathogenic EYA4-related disorder, EYA4-related disorder
RS2535340134 EYA4 Health Risk Pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS2535341455 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535341650 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS2535341687 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535341785 EYA4 Health Risk Pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS2535342236 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2535342363 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2535343546 DST Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2535348456 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2535349687 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS2535349697 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535350020 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535350159 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2535352440 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2535352584 SAMD9 Health Risk Likely pathogenic MIRAGE syndrome, MIRAGE syndrome
RS2535352835 SAMD9 Health Risk Conflicting classifications of pathogenicity MIRAGE syndrome, MIRAGE syndrome
RS2535353077 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS2535353132 SAMD9 Health Risk Likely pathogenic Monosomy 7 myelodysplasia and leukemia syndrome 2, Hereditary cancer-predisposing syndrome
RS2535354223 SAMD9 Health Risk Pathogenic See cases, See cases
RS2535355229 SAMD9 Health Risk Conflicting classifications of pathogenicity —
RS2535357099 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535357275 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535357784 SAMD9 Health Risk Likely pathogenic MIRAGE syndrome, MIRAGE syndrome
RS2535358325 SAMD9 Health Risk Likely pathogenic MIRAGE syndrome, MIRAGE syndrome
RS2535358818 SAMD9 Health Risk Likely pathogenic MIRAGE syndrome, MIRAGE syndrome
RS2535358833 SAMD9 Health Risk Likely pathogenic See cases, See cases
RS2535359490 SAMD9 Health Risk Likely pathogenic MIRAGE syndrome, MIRAGE syndrome
RS2535360971 SAMD9 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2535361498 SAMD9 Health Risk Likely pathogenic MIRAGE syndrome, MIRAGE syndrome
RS2535362460 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535362742 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2535365951 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535366127 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535366220 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535372434 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535373095 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535379771 EYA4 Health Risk Pathogenic Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS2535382134 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535383848 PKHD1 Health Risk Pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535384224 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 4, Lynch syndrome 4
RS2535385489 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535387288 POR Health Risk Likely pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS2535387554 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535387771 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2535390528 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2535392017 PMS2 Health Risk Likely pathogenic Lynch syndrome 4, Lynch syndrome 4
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