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
RS766704468 HNF1A Health Risk Pathogenic —
RS766705070 MAP3K7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766705843 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS766706861 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS766707325 DNAH8 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Spermatogenic failure 46
RS766709333 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 1
RS766709360 UTRN Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS766709484 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS766709743 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS766710257 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS766710382 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS766711286 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS766711342 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS766711908 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS766712618 TREM2 Health Risk Pathogenic Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS766712653 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS766713582 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS766713665 EYA1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 1, Branchiootorenal syndrome 1
RS766714128 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS766714463 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS766715445 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS766715882 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa
RS766716563 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS766717305 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS766719443 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS766719764 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis 1
RS766719790 TRPV6 Health Risk Pathogenic Hyperparathyroidism, transient neonatal
RS766720269 APC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766720790 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS766721028 JPH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS766721811 MMUT Health Risk Likely pathogenic —
RS766723466 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS766724096 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS766724527 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3
RS766724697 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS766726309 TCF4 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS766727694 NF1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS766727876 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS766728475 HSPB1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS766728732 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Hearing impairment
RS766730487 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS766730954 SCN9A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS766730980 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS766731755 ELAC2 Health Risk Pathogenic Prostate cancer, hereditary
RS766732875 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS766733097 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS766733439 GYS2 Health Risk Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS766734761 SMARCA2 Health Risk Conflicting classifications of pathogenicity —
RS766734961 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS766735610 RAG2 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Histiocytic medullary reticulosis
RS766735856 SLC34A2 Health Risk Pathogenic —
RS766735977 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS766736390 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766739164 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, APC-related disorder
RS766740575 ABCA4 Health Risk Pathogenic/Likely pathogenic Stargardt disease, Stargardt disease
RS766740877 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS766741057 BMPR2 Health Risk Likely pathogenic —
RS766741204 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Bardet-Biedl syndrome
RS766741890 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS766742117 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS766742720 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS766743441 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS766745103 TBC1D24 Health Risk Conflicting classifications of pathogenicity Familial infantile myoclonic epilepsy, Inborn genetic diseases
RS766745289 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS766745748 NCF2 Health Risk Pathogenic/Likely pathogenic Granulomatous disease, chronic
RS766745955 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS766746479 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, DMD-related disorder
RS766746657 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS766747354 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS766747626 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS766748586 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS766748789 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS766749712 LRRC8A Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS766750282 GALNT3 Health Risk Pathogenic Tumoral calcinosis, hyperphosphatemic
RS766750333 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS76675173 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS766751878 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS76675246 YY1 Health Risk Conflicting classifications of pathogenicity Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS766753209 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS766753795 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS766753906 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS766753922 OTOGL Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 84B
RS766754092 SPINK5 Health Risk Pathogenic/Likely pathogenic Ichthyosis linearis circumflexa, Netherton syndrome
RS766754598 SDHD Health Risk Conflicting classifications of pathogenicity Cowden syndrome 3, Carney-Stratakis syndrome
RS766755156 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS766755439 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS766756026 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS766758560 INSR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766759197 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS766759466 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766760388 POLR1C Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 3, Treacher Collins syndrome 3
RS766762597 ERF Health Risk Conflicting classifications of pathogenicity Lambdoidal craniosynostosis, Lambdoidal craniosynostosis
RS766762599 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS766762684 CTSF Health Risk Pathogenic Neuronal ceroid lipofuscinosis 13, Neuronal ceroid lipofuscinosis 13
RS766762760 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS766764090 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS766765538 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS766767235 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS766767855 PHOX2B Health Risk Conflicting classifications of pathogenicity Congenital central hypoventilation, Hereditary cancer-predisposing syndrome
RS766768359 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
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