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
RS548762791 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS548763994 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS548769905 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia
RS548774836 COG5 Health Risk Pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS548792892 NPHS1 Health Risk Pathogenic —
RS548799639 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS548804330 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Autoinflammatory syndrome
RS548832647 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS548841667 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS548844573 SLC34A1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic nephrolithiasis/osteoporosis 1, Fanconi renotubular syndrome 2
RS548848340 LEPR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LEPR-related disorder
RS548856916 AK2 Health Risk Conflicting classifications of pathogenicity Reticular dysgenesis, AK2-related disorder
RS548868946 ASAH1 Health Risk Conflicting classifications of pathogenicity —
RS548877132 NAV2 Health Risk Conflicting classifications of pathogenicity —
RS548882067 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS548892128 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS548893604 LOXHD1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS548898238 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS548903685 LAMA1 Health Risk Conflicting classifications of pathogenicity LAMA1-related disorder, LAMA1-related disorder
RS548909101 TRPV4 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS548910485 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS548910839 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS548931873 NIPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 6
RS548932103 TNFAIP3 Health Risk Conflicting classifications of pathogenicity —
RS548933169 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS548939171 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS548946316 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS548947826 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS548949031 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS548949995 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS548957135 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS548958500 IGFALS Health Risk Conflicting classifications of pathogenicity Short stature due to primary acid-labile subunit deficiency, Inborn genetic diseases
RS548982518 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS548986682 ZNF423 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Nephronophthisis 14
RS548988225 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS548992623 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS549006436 ATP1A3 Health Risk Likely pathogenic Dystonia 12, Dystonia 12
RS549008037 LMF1 Health Risk Likely pathogenic Lipase deficiency, combined
RS549020816 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549029029 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS549030188 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS549039968 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS549041558 DDB2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group E
RS549049385 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DSPP-related disorder
RS549049467 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS549058278 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS549058591 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS549062038 TBC1D7 Health Risk Conflicting classifications of pathogenicity —
RS549070265 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS549071467 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, Inborn genetic diseases
RS549081765 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity —
RS549085067 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS549085827 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, Citrullinemia type I
RS549089526 CYFIP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549092592 LEMD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549099674 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS5491 ICAM1 Health Risk Benign; risk factor Malaria, cerebral
RS549107212 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS549110435 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 46
RS549137282 GLUL Health Risk Conflicting classifications of pathogenicity Congenital brain dysgenesis due to glutamine synthetase deficiency, Congenital brain dysgenesis due to glutamine synthetase deficiency
RS549138385 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS549141429 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Amyotrophic neuralgia
RS549149043 DHX34 Health Risk Likely pathogenic Intellectual disability, Short stature
RS549150456 ETFDH Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS549156484 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS549161381 NKX2-5 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 7, 6 conditions
RS549164618 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS549171476 CHKB Health Risk Conflicting classifications of pathogenicity Megaconial type congenital muscular dystrophy, Megaconial type congenital muscular dystrophy
RS549177877 LBR Health Risk Conflicting classifications of pathogenicity —
RS549182297 NALCN Health Risk Conflicting classifications of pathogenicity NALCN-related disorder, NALCN-related disorder
RS549195122 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS549195233 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS549209308 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS549212476 RFWD3 Health Risk Conflicting classifications of pathogenicity RFWD3-related disorder, RFWD3-related disorder
RS549227905 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS549227957 TMEM126B Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 29
RS549230992 ITGA7 Health Risk Likely pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS549232924 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS549239819 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS549242855 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS549244691 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS549251133 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS549252135 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS549257982 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS549258808 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS549259627 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS549269828 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS549287534 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Microcephaly 3, primary
RS549292154 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS549293063 MYH14 Health Risk Conflicting classifications of pathogenicity MYH14-related disorder, Inborn genetic diseases
RS549296015 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS549324764 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, Mitochondrial neurogastrointestinal encephalomyopathy
RS549326241 ST3GAL5 Health Risk Likely pathogenic GM3 synthase deficiency, Gastric cancer
RS549330397 MASP1 Health Risk Pathogenic —
RS549336635 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS549345311 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS549347508 CARD14 Health Risk Conflicting classifications of pathogenicity Pityriasis rubra pilaris, Psoriasis 2
RS549360134 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS549360933 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS549364922 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
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