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
RS755959856 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS755961162 COL7A1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS755961343 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS755961411 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Benign familial hematuria
RS755961602 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS755962173 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755962512 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Inborn genetic diseases
RS755962697 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS755962971 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS755963597 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755963903 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMB2-related infantile-onset nephrotic syndrome
RS755964792 CACNA1S Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Malignant hyperthermia
RS755964863 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Inborn genetic diseases
RS755965129 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS755965232 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS755966311 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS755966941 ERBB2 Health Risk Conflicting classifications of pathogenicity Glioma susceptibility 1, Lung cancer
RS755967000 TRAPPC12 Health Risk Likely pathogenic Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
RS755967190 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS755967391 GRM6 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS755967723 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS755968404 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS755968563 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755968761 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS755969165 MYH10 Health Risk Pathogenic 7 conditions, 6 conditions
RS755969803 ENPP1 Health Risk Pathogenic Hypophosphatemic rickets, autosomal recessive
RS755969920 FBXW4 Health Risk Conflicting classifications of pathogenicity Split hand-foot malformation 3, Split hand-foot malformation 3
RS755970186 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS755970391 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS755970774 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS755972186 XDH Health Risk Conflicting classifications of pathogenicity Hereditary xanthinuria type 1, Hereditary xanthinuria type 1
RS755972674 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS755972697 CDT1 Health Risk Pathogenic —
RS755972713 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS755972876 CFHR5 Health Risk Conflicting classifications of pathogenicity C3 glomerulonephritis, Inborn genetic diseases
RS755973004 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Arginase deficiency
RS755973480 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS755973863 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS755974092 ERCC6 Health Risk Pathogenic —
RS755974448 ARSA Health Risk Pathogenic/Likely pathogenic Metachromatic leukodystrophy, ARSA-related disorder
RS755974871 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 5
RS755975244 ARG1 Health Risk Pathogenic Arginase deficiency, Arginase deficiency
RS755975670 NARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 24, NARS2-related disorder
RS755975980 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS755976129 COL9A1 Health Risk Likely pathogenic Stickler syndrome, type 4
RS755976424 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS755976465 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS755976776 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS755977911 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS755978559 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, Leukodystrophy
RS755980571 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Hypertrophic cardiomyopathy 15
RS755981187 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS755981642 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS755983199 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS755983212 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS755984510 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS755984905 FN1 Health Risk Conflicting classifications of pathogenicity Spondylometaphyseal dysplasia - Sutcliffe type, Glomerulopathy with fibronectin deposits 2
RS755985917 MID1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, X-linked Opitz G/BBB syndrome
RS755985958 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS755986012 IFITM5 Health Risk Conflicting classifications of pathogenicity IFITM5-related disorder, Inborn genetic diseases
RS755986694 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS755986911 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Cardiovascular phenotype
RS755987047 PCNT Health Risk Pathogenic PCNT-related disorder, PCNT-related disorder
RS755987663 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS755987732 COL11A1 Health Risk Pathogenic Intervertebral disc disorder, Hearing loss
RS755989911 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS755989926 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS755989946 KATNIP Health Risk Pathogenic/Likely pathogenic KATNIP-related disorder, KATNIP-related disorder
RS755990979 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS755992300 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS755992691 ATP6V0A4 Health Risk Conflicting classifications of pathogenicity Renal tubular acidosis, distal
RS755992942 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS755993710 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS755994483 SIGMAR1 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 2, Amyotrophic lateral sclerosis type 16
RS755994820 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS755995375 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS755995964 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS755996065 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, VPS13B-related disorder
RS755996321 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS755996559 FLG Health Risk Pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS755996862 ETV2 Health Risk Likely pathogenic Abnormal vertebral morphology, Hypoplastic left heart syndrome
RS755996999 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS755997898 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS755999681 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS755999834 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS756000896 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS756001839 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS756001994 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS756002498 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS756002632 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS756003242 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS756003817 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS756003832 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Retinitis pigmentosa 74
RS756004566 WDR35 Health Risk Pathogenic/Likely pathogenic Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS756004991 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS756005814 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS756006048 ERCC6L2 Health Risk Conflicting classifications of pathogenicity —
RS756008087 DDX41 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DDX41-related hematologic malignancy predisposition syndrome
RS756008276 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS756008307 NAA60 Health Risk Pathogenic Basal ganglia calcification, idiopathic
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