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
RS45592943 MMP9 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS45594034 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS45594632 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, Hereditary spherocytosis type 5
RS45596037 SFTPB Health Risk Likely pathogenic —
RS45596335 ABCB4 Health Risk Conflicting classifications of pathogenicity ABCB4-related disorder, Uterine corpus endometrial carcinoma
RS45596541 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS45596843 CIC Health Risk Conflicting classifications of pathogenicity —
RS45598038 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, IGF1R-related disorder
RS45598332 IGF1R Health Risk Conflicting classifications of pathogenicity IGF1R-related disorder, IGF1R-related disorder
RS45599040 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS45600438 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS45602040 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45602336 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS45602940 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS45603843 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS45604240 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS45607438 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS45607832 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS45608232 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS45608937 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Cardiomyopathy
RS45610536 SCN5A Health Risk Conflicting classifications of pathogenicity Long QT syndrome 3, Ventricular fibrillation
RS45610936 KCNE2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 6
RS45611033 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS45614332 TCAP Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 25, Primary familial hypertrophic cardiomyopathy
RS45616636 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS45617532 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS45617634 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS45619134 BRCA2 Health Risk Pathogenic —
RS45619232 HSD11B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Apparent mineralocorticoid excess
RS4561948 OTUD4 Health Risk Conflicting classifications of pathogenicity Amenorrhea, Amenorrhea
RS45619737 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS45620037 SCN5A Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 1, Brugada syndrome
RS45620539 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS45627337 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS45627438 SCN5A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Primary familial hypertrophic cardiomyopathy
RS45628136 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS45628833 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, SLC7A9-related disorder
RS4574921 TNFSF15 Health Risk Uncertain risk allele Leprosy, susceptibility to
RS4592324 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder
RS459552 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS460184 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS460897 CFH Health Risk Pathogenic/Likely pathogenic Hemolytic uremic syndrome, atypical
RS4628712 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS4646450 ZSCAN25;CYP3A5 Health Risk association appendicular lean mass relative to body height, appendicular lean mass relative to body height
RS4646837 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS464691 OTOA Health Risk Conflicting classifications of pathogenicity OTOA-related disorder, OTOA-related disorder
RS464696 OTOA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder
RS4647419 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS4647924 FGFR3 Health Risk Conflicting classifications of pathogenicity Muenke syndrome, Saethre-Chotzen syndrome
RS4648086 NFKB1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS4672457 FAM161A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 28
RS4678175 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS4690223 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS4713902 FKBP5 Health Risk Likely risk allele Susceptibility to severe depressive disorder, Susceptibility to severe depressive disorder
RS4713916 FKBP5 Health Risk Likely risk allele Susceptibility to severe depressive disorder, Susceptibility to severe depressive disorder
RS4722804 CREB5 Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS4727853 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS4748011 CCDC3 Health Risk association not found Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS4774518 DUOXA2 Health Risk Pathogenic/Likely pathogenic Thyroglobulin synthesis defect, Inborn genetic diseases
RS4785691 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS4786350 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS4795581 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS4833095 TLR1 Health Risk Benign; risk factor Leprosy, susceptibility to
RS483352683 FAS Health Risk Likely pathogenic Autoimmune lymphoproliferative syndrome with defective apoptosis, Autoimmune lymphoproliferative syndrome with defective apoptosis
RS483352690 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS483352692 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS483352695 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS483352696 TP53 Health Risk Likely pathogenic —
RS483352697 TP53 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS483352760 CGNL1 Health Risk Likely pathogenic —
RS483352768 GORAB Health Risk Conflicting classifications of pathogenicity —
RS483352778 MMUT Health Risk Likely pathogenic METHYLMALONIC ACIDURIA, mut(0) TYPE
RS483352806 EGFR Health Risk Conflicting classifications of pathogenicity Squamous cell carcinoma of the head and neck, EGFR-related lung cancer
RS483352809 TUBB4A Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 6, Torsion dystonia 4
RS483352810 FOXC1 Health Risk Pathogenic —
RS483352811 LMNA Health Risk Pathogenic Mandibuloacral dysplasia with type A lipodystrophy, Mandibuloacral dysplasia with type A lipodystrophy
RS483352813 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS483352814 ITGB2 Health Risk Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS483352815 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS483352816 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS483352817 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS483352818 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS483352819 ITGB2 Health Risk Pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS483352822 RIT1 Health Risk Pathogenic Noonan syndrome 8, Noonan syndrome
RS483352826 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, RASopathy
RS483352832 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS483352835 TNNT2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS483352837 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F
RS483352838 KLF1 Health Risk Conflicting classifications of pathogenicity BLOOD GROUP--LUTHERAN INHIBITOR, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6
RS483352839 KLF1 Health Risk Likely pathogenic —
RS483352840 KLF1 Health Risk Likely pathogenic Congenital dyserythropoietic anemia type 4, Congenital dyserythropoietic anemia type 4
RS483352841 KLF1 Health Risk Likely pathogenic —
RS483352842 KLF1 Health Risk Conflicting classifications of pathogenicity BLOOD GROUP--LUTHERAN INHIBITOR, BLOOD GROUP--LUTHERAN INHIBITOR
RS483352854 SERPINC1 Health Risk Likely pathogenic Tuberous sclerosis 2, Hereditary antithrombin deficiency
RS483352856 SERPINC1 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary antithrombin deficiency
RS483352866 TBC1D24 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 86, Autosomal dominant nonsyndromic hearing loss 65
RS483352867 STIM1 Health Risk Pathogenic Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency
RS483352869 MCM3AP Health Risk Pathogenic Peripheral neuropathy, autosomal recessive
RS483352872 - Health Risk Pathogenic Isolated growth hormone deficiency type IB, Isolated growth hormone deficiency type IB
RS483352879 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
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