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
RS777962341 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS777962427 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS777962458 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS777962754 NOTCH1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Adams-Oliver syndrome 5
RS777963115 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS777964192 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS777964510 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS777965779 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS777966677 JAGN1 Health Risk Conflicting classifications of pathogenicity Severe congenital neutropenia, Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
RS777966849 RPE65 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS77797012 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Inborn genetic diseases
RS777971431 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS777971510 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS777972512 SLC27A4 Health Risk Pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS777973395 LGI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant epilepsy with auditory features
RS777973486 DNAI1 Health Risk Conflicting classifications of pathogenicity Kartagener syndrome, Primary ciliary dyskinesia
RS777974629 AP4S1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS777974779 ETV6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777974798 PEX2 Health Risk Pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS777975604 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS777976050 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS777977352 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Muscular dystrophy
RS777977625 CRYBB1 Health Risk Conflicting classifications of pathogenicity Cataract 17 multiple types, Inborn genetic diseases
RS777979146 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS777979354 TCF20 Health Risk Pathogenic Neurodevelopmental abnormality, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS777979761 RIN2 Health Risk Conflicting classifications of pathogenicity RIN2-related disorder, RIN2-related disorder
RS777981245 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777981327 PRDM5 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS777983427 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, SATB2 associated disorder
RS777983437 FREM1 Health Risk Pathogenic —
RS777983705 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS777984685 IFT88 Health Risk Conflicting classifications of pathogenicity —
RS777985056 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777985189 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS777986224 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS777986630 MED13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dextro-looped transposition of the great arteries
RS777986840 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS777986863 SLC34A3 Health Risk Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS777987305 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS777987599 SI Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777987858 SERPINF1 Health Risk Conflicting classifications of pathogenicity —
RS777988373 LDHA Health Risk Pathogenic Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency, Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
RS777988634 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777989032 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS777989389 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS777989874 SLC24A1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Congenital stationary night blindness 1D
RS777990630 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS777992018 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS777992589 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS777994248 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777996384 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS777996811 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS777997121 GNB2 Health Risk Pathogenic —
RS777997220 RNF213 Health Risk Conflicting classifications of pathogenicity Moyamoya disease 2, Moyamoya disease 2
RS777997657 MTRR Health Risk Pathogenic/Likely pathogenic Methylcobalamin deficiency type cblE, Neural tube defects
RS777998210 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS777998706 SCN4A Health Risk Likely pathogenic Congenital myasthenic syndrome 16, Congenital myasthenic syndrome 16
RS777998984 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS777999570 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS777999875 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS778000327 SLC3A1 Health Risk Pathogenic/Likely pathogenic Nephrocalcinosis, Nephrolithiasis
RS778000601 CNGA3 Health Risk Conflicting classifications of pathogenicity Cone dystrophy, Cone dystrophy
RS778000913 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778000956 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS778002144 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS778003334 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS778003375 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS778003597 ALDH7A1 Health Risk Pathogenic Inborn genetic diseases, Pyridoxine-dependent epilepsy
RS778005138 VHL Health Risk Conflicting classifications of pathogenicity VHL-related disorder, Von Hippel-Lindau syndrome
RS778005207 MERTK Health Risk Likely pathogenic Retinitis pigmentosa 38, Retinitis pigmentosa 38
RS778006745 PIKFYVE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778008936 MYO18B Health Risk Pathogenic —
RS778009227 MYO7A Health Risk Pathogenic Usher syndrome type 1B, Usher syndrome type 1
RS778011429 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS778011573 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS778012079 LAMC2 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS778013714 MPO Health Risk Conflicting classifications of pathogenicity Myeloperoxidase deficiency, Alzheimer disease type 1
RS778014249 TTN Health Risk Conflicting classifications of pathogenicity —
RS778014568 NLGN4X Health Risk Conflicting classifications of pathogenicity —
RS778016282 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS778016364 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS778017096 EMC1 Health Risk Pathogenic/Likely pathogenic Cerebellar atrophy, visual impairment
RS778021009 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS778021095 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS778021239 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS778021478 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778022363 ATR Health Risk Conflicting classifications of pathogenicity —
RS778022582 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS778022810 SLC22A12 Health Risk Pathogenic/Likely pathogenic Dalmatian hypouricemia, Dalmatian hypouricemia
RS778023258 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS778023612 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS778023978 SLC45A2 Health Risk Pathogenic —
RS778024754 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS778026407 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa, Amelogenesis imperfecta type 1A
RS778027769 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS778028015 CSMD1 Health Risk Likely pathogenic CSMD1-related disorder, CSMD1-related disorder
RS778028287 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS778028644 PKD1 Health Risk Pathogenic PKD1-related disorder, Polycystic kidney disease
RS778028967 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS778030031 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
« Prev 1 ... 3648 3649 3650 3651 3652 3653 3654 ... 4509 Next »

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

Get Started Free →