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
RS564856283 MYBPC1 Health Risk Pathogenic/Likely pathogenic Myopathy, congenital
RS564858245 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS564867814 PIEZO2 Health Risk Conflicting classifications of pathogenicity PIEZO2-related disorder, Inborn genetic diseases
RS564869863 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS564871157 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS564875531 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS564880597 CSF3R Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Inborn genetic diseases
RS564884307 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS564887323 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS564894886 TNXB Health Risk Conflicting classifications of pathogenicity See cases, TNXB-related disorder
RS564897812 ADCY10 Health Risk Conflicting classifications of pathogenicity —
RS564899884 MYO1E Health Risk Conflicting classifications of pathogenicity MYO1E-related disorder, Focal segmental glomerulosclerosis 6
RS564908429 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS564910868 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS564911507 CIC Health Risk Conflicting classifications of pathogenicity See cases, Intellectual disability
RS564917505 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS564919438 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS564929531 SLC5A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial renal glucosuria
RS564930066 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS564930869 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Inborn genetic diseases
RS564937293 CACNA1D Health Risk Conflicting classifications of pathogenicity Sinoatrial node dysfunction and deafness, Sinoatrial node dysfunction and deafness
RS564938323 NSUN2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 5
RS564939247 ARMC9 Health Risk Conflicting classifications of pathogenicity —
RS564943632 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS564949885 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Inborn genetic diseases
RS564964646 C5 Health Risk Conflicting classifications of pathogenicity Complement component 5 deficiency, Complement component 5 deficiency
RS564977715 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS564979861 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS564992297 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS565004625 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS565012397 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS565013143 ALDOA Health Risk Conflicting classifications of pathogenicity HNSHA due to aldolase A deficiency, ALDOA-related disorder
RS565013600 SYNJ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-onset Parkinson disease 20
RS565020131 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS565025643 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS565042425 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS565046666 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS565049190 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS565049855 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS565065320 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS565069721 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Sarcoglycanopathy
RS565073445 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS565076112 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS565082329 TSHR Health Risk Likely pathogenic Hypothyroidism due to TSH receptor mutations, Hypothyroidism due to TSH receptor mutations
RS565088728 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS565089874 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565090080 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Inborn genetic diseases
RS565091566 TARDBP Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS565096713 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565096937 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Amyotrophic lateral sclerosis type 11
RS565098856 PHIP Health Risk Pathogenic Early onset severe obesity, Early onset severe obesity
RS565100245 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS565102282 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS565110158 ASXL2 Health Risk Conflicting classifications of pathogenicity Shashi-Pena syndrome, Intellectual disability
RS565132015 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases
RS565136635 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS565137573 SPEG Health Risk Conflicting classifications of pathogenicity —
RS565152814 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS565156541 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565162134 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS565173276 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS565184120 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS565203731 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS565206764 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565210312 PDYN Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 23, Spinocerebellar ataxia type 23
RS565211544 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS565214018 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS565216093 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS565216977 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS565224393 NARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 24, Combined oxidative phosphorylation defect type 24
RS565227443 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS565229873 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS565236615 LRMDA Health Risk Conflicting classifications of pathogenicity —
RS565236668 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS565238806 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS565241553 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS565245995 LRP5 Health Risk Conflicting classifications of pathogenicity 8 conditions, 8 conditions
RS565253666 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Abnormality of the nervous system
RS565256491 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS565261873 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS565262730 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS565266663 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS565268514 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS565270893 ABHD12 Health Risk Conflicting classifications of pathogenicity ABHD12-related disorder, ABHD12-related disorder
RS565283604 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS565287436 KCNE3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 6, Cardiovascular phenotype
RS565288028 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS565288775 LBR Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Malignant tumor of urinary bladder
RS565291398 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS565294723 BOLA3 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 2, Multiple mitochondrial dysfunctions syndrome 2
RS565299079 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS565307908 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS565314634 INS Health Risk Conflicting classifications of pathogenicity Neonatal insulin-dependent diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS565316605 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Inborn genetic diseases
RS565318742 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS565329216 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS565333965 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS565336088 IMPG1 Health Risk Pathogenic —
RS565345523 IL12B Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Inborn genetic diseases
RS565348836 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
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