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
RS137927139 NFASC Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with central and peripheral motor dysfunction, Inborn genetic diseases
RS137927384 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, EIF2AK3-related disorder
RS1379274045 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS137927599 ASAP3 Health Risk Conflicting classifications of pathogenicity —
RS137927658 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS137928037 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, PKD1-related disorder
RS137929307 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS137929776 PRUNE1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with microcephaly, hypotonia
RS137930278 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS137931613 GUCA1A Health Risk Conflicting classifications of pathogenicity —
RS137932153 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis 4
RS137932199 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS137932222 HMOX1 Health Risk Conflicting classifications of pathogenicity Heme oxygenase 1 deficiency, Chronic obstructive pulmonary disease
RS137932254 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS137932369 MAGT1 Health Risk Conflicting classifications of pathogenicity X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1379328798 PLK4 Health Risk Likely pathogenic —
RS137933052 TNC Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 56, Autosomal dominant nonsyndromic hearing loss 56
RS137933227 CILK1 Health Risk Conflicting classifications of pathogenicity —
RS137933764 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1379343211 CUL4B Health Risk Pathogenic X-linked intellectual disability Cabezas type, X-linked intellectual disability Cabezas type
RS137934849 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TUBGCP6-related disorder
RS137935194 XYLT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 2
RS137935543 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS137935680 KCNK4 Health Risk Conflicting classifications of pathogenicity —
RS1379359957 SPG11 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2X, Hereditary spastic paraplegia 11
RS137937390 NCF2 Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS137937502 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Pituitary adenoma 5
RS1379375089 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1379376784 CARD9 Health Risk Pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1379381861 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS137938410 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS137938780 GPR143 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1379388267 ENTPD1 Health Risk Pathogenic Hereditary spastic paraplegia 64, Hereditary spastic paraplegia 64
RS1379392398 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS1379395211 RAC3 Health Risk Conflicting classifications of pathogenicity Distal shortening of limbs, Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies
RS137939978 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 24, Meckel syndrome
RS137940243 RBM10 Health Risk Conflicting classifications of pathogenicity —
RS1379402448 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1379402512 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS137940405 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS1379405913 POLG;RLBP1 Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1379407031 ATF6 Health Risk Pathogenic —
RS137941190 DCPS Health Risk Conflicting classifications of pathogenicity Al-Raqad syndrome, Al-Raqad syndrome
RS137941635 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS1379418184 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1379420634 HERC1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS137942440 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS137942494 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137942830 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, HMCN1-related disorder
RS1379431768 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS137943515 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS137943524 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137943601 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS137944477 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS137944487 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Melanoma
RS1379445826 PPP2R1A Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS137945983 ANO6 Health Risk Conflicting classifications of pathogenicity ANO6-related disorder, ANO6-related disorder
RS137946070 IL21R Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, IL21R-related disorder
RS137946171 NR1H4 Health Risk Conflicting classifications of pathogenicity —
RS137946207 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome, Bifunctional peroxisomal enzyme deficiency
RS137946697 TBXAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137946976 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS137947462 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS137948104 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, COL2A1-related disorder
RS137949961 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS137950394 REV3L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137950660 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS1379507306 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS137952560 WDR81 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, WDR81-related disorder
RS1379525680 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS137952838 HDAC8 Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 5, Inborn genetic diseases
RS137953195 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS1379533666 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS137953994 EPO Health Risk Conflicting classifications of pathogenicity Malignant tumor of esophagus, Clear cell carcinoma of kidney
RS137954284 USH2A Health Risk Likely pathogenic Usher syndrome, Retinal dystrophy
RS137954725 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS137955120 FUZ Health Risk risk factor Neural tube defects, susceptibility to
RS137955225 MMP21 Health Risk Pathogenic/Likely pathogenic Visceral heterotaxy, Heterotaxy
RS137955659 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS1379558944 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS137955986 PPP1R15B Health Risk Conflicting classifications of pathogenicity PPP1R15B-related disorder, PPP1R15B-related disorder
RS137956083 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency
RS137956605 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS1379578270 DNAI1 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1379578836 WDR62 Health Risk Likely pathogenic Microcephaly 2, primary
RS137958217 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS137959302 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Inborn genetic diseases
RS1379596542 NOTCH1 Health Risk Conflicting classifications of pathogenicity Chronic adenoiditis, Adams-Oliver syndrome 5
RS137960127 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS137960129 MFN2 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS1379605717 MSH3 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS137962077 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS137962152 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Usher syndrome type 1C
RS137962226 ZC4H2 Health Risk Likely pathogenic Wieacker-Wolff syndrome, female-restricted
RS137962409 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS137962929 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS1379630288 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1379638059 PCNT Health Risk Pathogenic —
RS1379641378 GNB5 Health Risk Pathogenic Gnb5-related intellectual disability-cardiac arrhythmia syndrome, Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia
RS137964147 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
« Prev 1 ... 438 439 440 441 442 443 444 ... 4509 Next »

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

Get Started Free →