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
RS267601099 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS267601384 CNTNAP2 Health Risk Pathogenic/Likely pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS267601454 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS267601516 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Permanent neonatal diabetes mellitus 1
RS267601598 PCLO Health Risk Pathogenic —
RS267601688 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS267601690 RP1L1 Health Risk Likely pathogenic Retinitis pigmentosa 88, Retinitis pigmentosa 88
RS267601810 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, CYP11B1-related disorder
RS267601925 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS267601966 CYP7B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS267602258 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS267602733 TECTA Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 21, Autosomal recessive nonsyndromic hearing loss 21
RS267602801 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS267602823 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS267602849 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS267602852 WT1 Health Risk Likely pathogenic Frasier syndrome, Frasier syndrome
RS267603200 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS267603422 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS267603424 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS267603451 KIF21A Health Risk Likely pathogenic Congenital fibrosis of extraocular muscles type 1, Congenital fibrosis of extraocular muscles type 1
RS267603461 CNTN1 Health Risk Conflicting classifications of pathogenicity Compton-North congenital myopathy, Inborn genetic diseases
RS267603591 SDR9C7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS267603791 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS267603829 TNFSF11 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 2, Autosomal recessive osteopetrosis 2
RS267603840 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS267604210 UBR1 Health Risk Pathogenic Inborn genetic diseases, Johanson-Blizzard syndrome
RS267604309 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS267604368 ACAN Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS267604470 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS267604575 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS267604688 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Inborn genetic diseases
RS267604735 DNAH9 Health Risk Pathogenic —
RS267604791 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS267604793 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS267604854 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS267604943 COL1A1 Health Risk Pathogenic Infantile cortical hyperostosis, Osteogenesis imperfecta type I
RS267604988 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS267605076 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS267605077 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS267605146 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS267605294 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS267605358 JAK3 Health Risk Pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, Severe combined immunodeficiency disease
RS267605525 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS267605834 JAG1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS267606051 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS267606197 MYO18B Health Risk Pathogenic/Likely pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS267606230 SLC5A1 Health Risk Likely pathogenic Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS267606310 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS267606317 DCX Health Risk Conflicting classifications of pathogenicity Ectopic tissue, Lissencephaly type 1 due to doublecortin gene mutation
RS267606453 RPGR Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS267606510 NEXMIF Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, Cantagrel type
RS267606511 NEXMIF Health Risk Pathogenic —
RS267606541 AIP Health Risk Pathogenic Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606550 AIP Health Risk Conflicting classifications of pathogenicity Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606552 AIP Health Risk Pathogenic Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606559 AIP Health Risk Pathogenic Somatotroph adenoma, Somatotroph adenoma
RS267606560 AIP Health Risk Pathogenic Somatotroph adenoma, Somatotroph adenoma
RS267606561 AIP Health Risk Conflicting classifications of pathogenicity Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606566 AIP Health Risk Pathogenic Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606567 AIP Health Risk Pathogenic Somatotroph adenoma, Somatotroph adenoma
RS267606568 AIP Health Risk Pathogenic Somatotroph adenoma, Somatotroph adenoma
RS267606569 AIP Health Risk Likely pathogenic Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606576 AIP Health Risk Pathogenic Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606578 AIP Health Risk Pathogenic Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606579 AIP Health Risk Pathogenic/Likely pathogenic Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606580 AIP Health Risk Pathogenic Somatotroph adenoma, Somatotroph adenoma
RS267606586 AIP Health Risk Conflicting classifications of pathogenicity Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606589 AIP Health Risk Conflicting classifications of pathogenicity Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS267606595 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS267606596 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS267606597 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS267606598 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS267606599 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS267606600 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS267606601 NF1 Health Risk Pathogenic Neurofibromatosis, familial spinal
RS267606602 NF1 Health Risk Pathogenic Juvenile myelomonocytic leukemia, Neurofibromatosis
RS267606603 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS267606604 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS267606605 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS267606606 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis-Noonan syndrome, Café-au-lait macules with pulmonary stenosis
RS267606607 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis-Noonan syndrome, Neurofibromatosis
RS267606608 NF1 Health Risk Pathogenic Neurofibromatosis-Noonan syndrome, Neurofibromatosis-Noonan syndrome
RS267606609 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS267606610 NF1 Health Risk Likely pathogenic Neurofibromatosis, familial spinal
RS267606612 MT-CO3 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS267606613 MT-CO3 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS267606614 MT-CO3 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 1
RS267606621 AARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease
RS267606622 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS267606624 ABHD12 Health Risk Pathogenic PHARC syndrome, PHARC syndrome
RS267606625 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS267606629 ACTC1 Health Risk Pathogenic Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS267606630 ACTG1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 20, Autosomal dominant nonsyndromic hearing loss 20
RS267606631 ACTG1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 20, Rare genetic deafness
RS267606632 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS267606636 ADAMTS10 Health Risk Pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS267606637 ADAMTS10 Health Risk Pathogenic Weill-Marchesani syndrome 1, Weill-Marchesani syndrome 1
RS267606638 ADAMTS17 Health Risk Pathogenic Weill-Marchesani 4 syndrome, recessive
RS267606639 AGL Health Risk Likely pathogenic Glycogen storage disease IIIc, Glycogen storage disease type III
RS267606640 AGL Health Risk Pathogenic Glycogen storage disease IIIa, Glycogen storage disease type III
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