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
RS747318909 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, Inborn genetic diseases
RS747319274 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS747319628 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS747320688 TYRP1 Health Risk Likely pathogenic —
RS747320964 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS747321219 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS747321794 KCNE1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Primary dilated cardiomyopathy
RS747322064 SYNE1 Health Risk Pathogenic/Likely pathogenic —
RS747322128 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS747322175 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS747322973 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS747323210 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, Inborn genetic diseases
RS747323414 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS747324600 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS747325352 VPS35 Health Risk Conflicting classifications of pathogenicity Parkinson disease 17, Parkinson disease 17
RS747325717 HSPB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS747325774 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747326096 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS747326278 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS747326519 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS747327884 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS747329682 HSD17B3 Health Risk Pathogenic/Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS747330606 ACO2 Health Risk Likely pathogenic ACO2-related disorder, ACO2-related disorder
RS747331232 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS747331582 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS747333172 DAW1 Health Risk Pathogenic Primary ciliary dyskinesia, Ciliary dyskinesia
RS747334007 APTX Health Risk Conflicting classifications of pathogenicity —
RS747335514 SLC25A20 Health Risk Conflicting classifications of pathogenicity Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS747335870 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS747336313 ALDH5A1 Health Risk Pathogenic Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS747336541 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS747337505 COL7A1 Health Risk Pathogenic —
RS747337656 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS747338200 ACSF3 Health Risk Conflicting classifications of pathogenicity Combined malonic and methylmalonic acidemia, Inborn genetic diseases
RS747339588 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS747340554 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS747341006 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, non-Herlitz type
RS747341586 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS747342068 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS747342409 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS747343598 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS747344293 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS747347518 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS747347699 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Inborn genetic diseases
RS747348017 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS747348231 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS747348765 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS747348966 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS747349009 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747349160 VDR Health Risk Likely pathogenic —
RS747349942 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS747351557 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS747351687 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS747353360 FKBP14 Health Risk Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS747353479 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS747354165 SART3 Health Risk Likely pathogenic Intellectual disability, Neurodevelopmental defects and Developmental delay with 46
RS747355604 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS747355678 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS747355737 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS747356302 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS747356601 SETX Health Risk Conflicting classifications of pathogenicity SETX-related disorder, Amyotrophic lateral sclerosis type 4
RS747356664 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1E
RS747357928 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS747357971 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS747358182 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS747358703 DRC1 Health Risk Pathogenic Primary ciliary dyskinesia, DRC1-related disorder
RS747358776 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS74735908 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS747359694 BSND Health Risk Conflicting classifications of pathogenicity Bartter disease type 4A, Bartter disease type 4A
RS747359752 NDUFS4 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, Leigh syndrome
RS747359907 UFM1 Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS747360063 MNS1 Health Risk Likely pathogenic MNS1-related disorder, MNS1-related disorder
RS747360355 CEACAM16 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4B, Autosomal dominant nonsyndromic hearing loss 4B
RS747360831 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS747361414 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS747362082 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS747362311 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS747362422 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS747362746 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS747363115 KMT2D Health Risk Pathogenic —
RS747363890 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS747365357 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS747367304 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Cardiovascular phenotype
RS747369521 COL1A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS747369610 TBX4 Health Risk Pathogenic Pulmonary hypertension, primary
RS747370741 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS747371137 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS747371923 MYO15A Health Risk Pathogenic MYO15A-related disorder, MYO15A-related disorder
RS747372270 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS747372355 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS747373179 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS747373290 DVL1 Health Risk Conflicting classifications of pathogenicity —
RS747374618 DMD Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS747376234 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS747376305 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS747376663 GORAB Health Risk Pathogenic/Likely pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS747376669 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS747377024 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS747377194 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747377284 SOX10 Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome, PCWH syndrome
« Prev 1 ... 3152 3153 3154 3155 3156 3157 3158 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →