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
RS751713111 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS751713432 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS751713601 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS751713917 CYP7B1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 5A, Spastic paraplegia
RS751714292 SCN8A Health Risk Likely pathogenic —
RS751715193 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS751715969 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS751716762 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS751717131 MMAA Health Risk Likely pathogenic Methylmalonic aciduria, cblA type
RS751721557 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS751724804 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS751725130 ENPP1 Health Risk Pathogenic Arterial calcification, generalized
RS751726505 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS751726519 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS751726770 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS751728141 RNF13 Health Risk Conflicting classifications of pathogenicity —
RS751728774 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS751728796 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS751728820 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS751732786 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS751733167 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS751733169 STIM1 Health Risk Pathogenic Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates
RS751733505 TUBB4A Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 6, Hypomyelinating leukodystrophy 6
RS751733811 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS751734028 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS751734367 CEP104 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome 25
RS751734985 AHI1 Health Risk Pathogenic Joubert syndrome 3, Joubert syndrome
RS751735028 CANT1 Health Risk Conflicting classifications of pathogenicity Desbuquois dysplasia 1, Desbuquois dysplasia 1
RS751741065 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751742258 HSD17B4 Health Risk Pathogenic Perrault syndrome 1, Perrault syndrome 1
RS751742575 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS751742955 AP4M1 Health Risk Pathogenic Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS751744545 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS751744651 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive Alport syndrome
RS751745906 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS751746401 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS751748298 C6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751748445 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS751749614 COL17A1 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS751749720 BMPR2 Health Risk Conflicting classifications of pathogenicity Primary pulmonary hypertension, Pulmonary venoocclusive disease 1
RS751749918 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS751749989 COL4A1 Health Risk Conflicting classifications of pathogenicity Schizencephaly, Retinal arterial tortuosity
RS751750112 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS751750631 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751751349 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS751752830 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS751753112 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS751753677 COASY Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 6, Pontocerebellar hypoplasia
RS751753975 HPD Health Risk Conflicting classifications of pathogenicity Tyrosinemia type III, Hawkinsinuria
RS751754026 CACNB4 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Episodic ataxia type 5
RS751754128 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751754608 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS751754677 TBCD Health Risk Pathogenic/Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, TBCD-related disorder
RS751755276 MBTPS2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta
RS751756042 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS751757203 FANCC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia
RS75175945 AEBP1 Health Risk Conflicting classifications of pathogenicity —
RS751759733 SLC12A2 Health Risk Conflicting classifications of pathogenicity Kilquist syndrome, Hearing loss
RS751759820 STAR Health Risk Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS751759887 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS751760156 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS751761766 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS751762149 KIF22 Health Risk Pathogenic Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations
RS751763023 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS751763157 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS751763527 TYRP1 Health Risk Pathogenic/Likely pathogenic —
RS751764482 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS751764864 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS751764908 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Spastic ataxia 10
RS751765105 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS751766259 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Phytanic acid storage disease
RS751767695 RNASEH2C Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
RS751768052 WNT2B Health Risk Pathogenic —
RS751768343 CYP1B1 Health Risk Likely pathogenic Glaucoma 3A, Glaucoma 3
RS751768659 COL7A1 Health Risk Pathogenic —
RS751769266 WDR35 Health Risk Conflicting classifications of pathogenicity WDR35-related disorder, Cranioectodermal dysplasia 2
RS751769391 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome
RS751769427 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Asphyxiating thoracic dystrophy 3
RS751771156 NF2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS751771991 ADCY10 Health Risk Likely pathogenic —
RS751772225 EVC Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS751772396 INF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Focal segmental glomerulosclerosis 5
RS751773278 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751773510 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS751774080 HPGD Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS751775497 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS751776251 SLC34A3 Health Risk Pathogenic —
RS751776479 FAT4 Health Risk Pathogenic —
RS751778243 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS751778283 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS751778396 AP5Z1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS751778614 ENG Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary hemorrhagic telangiectasia
RS751778923 MAT1A Health Risk Conflicting classifications of pathogenicity Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS751779219 TMEM127 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS751779314 APRT Health Risk Likely pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS751779659 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS751779702 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751780309 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS751780827 POGLUT1 Health Risk Conflicting classifications of pathogenicity —
RS751780925 FRAS1 Health Risk Pathogenic —
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