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
RS387907367 RP1L1 Health Risk Pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS387907368 RNF216 Health Risk Pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS387907369 RNF216 Health Risk Pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS387907370 RNF216 Health Risk Pathogenic Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
RS387907371 FLNA Health Risk Pathogenic Terminal osseous dysplasia-pigmentary defects syndrome, Heterotopia
RS387907372 FGFR2 Health Risk Pathogenic Acrocephalosyndactyly type I, Acrocephalosyndactyly type I
RS387907373 NR0B1 Health Risk Pathogenic Congenital adrenal hypoplasia, X-linked
RS387907374 SLC40A1 Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS387907377 SLC40A1 Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS387907389 ACO2 Health Risk Pathogenic —
RS387907394 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS387907417 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS387907447 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS387907460 PTH1R Health Risk Conflicting classifications of pathogenicity Chondrodysplasia Blomstrand type, Metaphyseal chondrodysplasia
RS387907472 SLC12A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hypokalemia-hypomagnesemia
RS387907484 IDUA;SLC26A1 Health Risk Conflicting classifications of pathogenicity Hurler syndrome, Hurler syndrome
RS387907486 IDUA;SLC26A1 Health Risk Conflicting classifications of pathogenicity Hurler syndrome, Hurler syndrome
RS387907549 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS387907553 UMOD Health Risk Conflicting classifications of pathogenicity Kidney disorder, Kidney disorder
RS387907562 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS387907566 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS387907567 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS387907570 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS387907571 DNAJC13 Health Risk Conflicting classifications of pathogenicity Parkinson disease, late-onset
RS387907572 CYP11B1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Congenital adrenal hyperplasia
RS387907573 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS387907575 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS387907576 CLCN7 Health Risk Pathogenic/Likely pathogenic Autosomal dominant osteopetrosis 2, Autosomal recessive osteopetrosis 4
RS387907598 KLF1 Health Risk Pathogenic Congenital dyserythropoietic anemia type 4, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
RS387907599 KLF1 Health Risk Pathogenic FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6, Congenital dyserythropoietic anemia type 4
RS3888565 ABCC1 Health Risk association Familial cancer of breast, Familial cancer of breast
RS3899076 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS3901896 ARNT2 Health Risk association Pulmonary disease, chronic obstructive
RS390659 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS3917215 TGFB3 Health Risk Conflicting classifications of pathogenicity —
RS3917254 IL1R1 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS3917296 IL1R1 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS3918021 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Hereditary neutrophilia
RS3918289 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Inborn genetic diseases
RS3918290 DPYD Health Risk Pathogenic/Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Fluorouracil response
RS3918389 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS3950029 CCDC88C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CCDC88C-related disorder
RS3970555 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4
RS3970559 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4
RS3974499 SLC9B1 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS397507168 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS397507169 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS397507170 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Colon adenocarcinoma
RS397507171 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397507173 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS397507174 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS397507175 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS397507176 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Inborn genetic diseases
RS397507177 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS397507178 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS397507179 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS397507180 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507181 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507182 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507183 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507184 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507185 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS397507186 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507187 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507188 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507189 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507190 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507191 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507192 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507193 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507194 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507195 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507198 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507199 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507200 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507201 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507202 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507203 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507205 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507206 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507207 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507208 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507210 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507211 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507212 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507213 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507215 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507216 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507217 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507218 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507219 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507220 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507221 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507222 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507223 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507224 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS397507225 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507226 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507228 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS397507229 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
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