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
RS367929249 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS367930028 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS367931139 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS367932369 SFXN4 Health Risk Pathogenic/Likely pathogenic Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
RS367934560 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS367936668 CEP152 Health Risk Pathogenic —
RS367936675 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS367937228 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS367937691 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS367937904 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS367938116 CHRNG Health Risk Likely pathogenic Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS367940062 ROBO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367941175 TRPV3 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Isolated focal non-epidermolytic palmoplantar keratoderma
RS367942639 PDSS1 Health Risk Conflicting classifications of pathogenicity Deafness-encephaloneuropathy-obesity-valvulopathy syndrome, Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
RS367943020 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS367943249 FOXE3 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 11
RS367945387 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS367945973 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Cervical cancer
RS367946786 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS367947846 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS367948333 FLNA Health Risk Conflicting classifications of pathogenicity FG syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS367949169 CHAMP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS367949241 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS367949317 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SCN8A-related disorder
RS367949397 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS367950442 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, ALG9 congenital disorder of glycosylation
RS367951310 LIPT1 Health Risk Likely pathogenic —
RS367952133 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS367952566 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367952604 USH1C Health Risk Conflicting classifications of pathogenicity —
RS367953088 XPC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367956129 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS367956522 ATP7B Health Risk Likely pathogenic Wilson disease, Inborn genetic diseases
RS367956888 COX20 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS367956927 HTR1A Health Risk Conflicting classifications of pathogenicity Menstrual cycle-dependent periodic fever, Menstrual cycle-dependent periodic fever
RS367957647 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS367958380 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS367958901 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS367958902 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Netherton syndrome
RS367959489 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, 6 conditions
RS367960214 RB1 Health Risk Pathogenic —
RS367960344 VARS2 Health Risk Conflicting classifications of pathogenicity —
RS367960697 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS367960721 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS367961012 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS367961979 DES Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1I, Neurogenic scapuloperoneal syndrome
RS367962377 MYCN Health Risk Pathogenic Feingold syndrome type 1, Feingold syndrome type 1
RS367962941 ZNF513 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS367963535 VAV1 Health Risk Conflicting classifications of pathogenicity —
RS367963898 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS367963956 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Ovarian serous cystadenocarcinoma
RS367965088 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS367966267 TBC1D24 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 86, TBC1D24-related disorder
RS367966473 SOX9 Health Risk Conflicting classifications of pathogenicity Camptomelic dysplasia, SOX9-related disorder
RS367968666 GBA1 Health Risk Conflicting classifications of pathogenicity; other Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome, Gaucher disease type I
RS367968708 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS367969323 SH2B1 Health Risk Conflicting classifications of pathogenicity Lung cancer, Lung cancer
RS367970442 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS367970695 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Autosomal dominant polycystic kidney disease
RS367971695 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Infantile cortical hyperostosis
RS367972703 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS367973461 FGFR3 Health Risk Conflicting classifications of pathogenicity FGFR3-related disorder, FGFR3-related disorder
RS367974002 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS367974065 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS367974156 FXN Health Risk Conflicting classifications of pathogenicity —
RS367974472 ABCC8 Health Risk Conflicting classifications of pathogenicity Diabetes mellitus, transient neonatal
RS367976552 PLIN1 Health Risk Conflicting classifications of pathogenicity —
RS367976757 CACNA1D Health Risk Conflicting classifications of pathogenicity Sinoatrial node dysfunction and deafness, Aldosterone-producing adenoma with seizures and neurological abnormalities
RS367976914 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome
RS367977379 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS367977493 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS367977602 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS367978759 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta
RS367979106 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS367979371 ACTN2 Health Risk Conflicting classifications of pathogenicity —
RS367979582 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS367980010 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS367980215 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS367980407 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS367981116 SCN2B Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Atrial fibrillation
RS367981647 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS367981696 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases
RS367982022 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), PEX14-related disorder
RS367982075 MTTP Health Risk Conflicting classifications of pathogenicity Abetalipoproteinaemia, Abetalipoproteinaemia
RS367982176 HSD17B10 Health Risk Conflicting classifications of pathogenicity —
RS367982631 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS367983954 CACNA1S Health Risk Pathogenic/Likely pathogenic Malignant hyperthermia, susceptibility to
RS367984149 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, SH3BP2-related disorder
RS367984492 TARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS367985432 TBCD Health Risk Conflicting classifications of pathogenicity TBCD-related disorder, TBCD-related disorder
RS367985661 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS367987327 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS367987650 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS367988204 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS367988986 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS367989965 SIN3A Health Risk Conflicting classifications of pathogenicity SIN3A-related intellectual disability syndrome due to a point mutation, Inborn genetic diseases
RS367990143 TMX2 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, cortical malformations
RS367990192 PYGM Health Risk Likely pathogenic Glycogen storage disease, type V
RS367990772 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS367990952 MYBPC3 Health Risk Likely pathogenic —
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