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
RS761864712 MSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761865592 TRIP4 Health Risk Pathogenic Spinal muscular atrophy with congenital bone fractures 1, Spinal muscular atrophy with congenital bone fractures 1
RS761865629 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS761866949 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS761867026 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS761867791 ABCA4 Health Risk Pathogenic ABCA4-related disorder, ABCA4-related retinopathy
RS761868468 SMARCB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, SMARCB1-related disorder
RS761868828 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS761869255 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS761869951 CTC1 Health Risk Pathogenic/Likely pathogenic Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS76187047 ZGRF1 Health Risk Conflicting classifications of pathogenicity Childhood apraxia of speech, Autism spectrum disorder
RS761870531 DOHH Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with microcephaly, cerebral atrophy
RS761870581 AXIN2 Health Risk Pathogenic/Likely pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS761870682 MTHFR Health Risk Likely pathogenic Neural tube defects, folate-sensitive
RS761872177 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS761872951 MBD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS761875399 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RERE-related disorder
RS761877050 CFH Health Risk Conflicting classifications of pathogenicity Basal laminar drusen, Factor H deficiency
RS761877111 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS761877146 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS761877376 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS761877421 FLG Health Risk Pathogenic/Likely pathogenic FLG-related disorder, FLG-related disorder
RS761877926 FGFR3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761878149 TBX20 Health Risk Conflicting classifications of pathogenicity —
RS761878844 TRAPPC6B Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, epilepsy
RS761879076 WWOX Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 12, Developmental and epileptic encephalopathy
RS761881020 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS761881815 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS761885230 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS761885395 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, PNPLA2-related disorder
RS761886494 LPL Health Risk Pathogenic Hyperlipoproteinemia, type I
RS761886575 ADAMTSL2 Health Risk Pathogenic Geleophysic dysplasia 1, Abnormal facial shape
RS761886683 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS761886735 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS761887390 PTCH1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 7, Gorlin syndrome
RS761888880 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS761890075 ADGRA3 Health Risk Conflicting classifications of pathogenicity —
RS761890952 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS761894527 SLC18A3 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 21, Congenital myasthenic syndrome 21
RS761894809 NALCN Health Risk Conflicting classifications of pathogenicity —
RS761894928 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS761895918 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS761896026 LCA5 Health Risk Likely pathogenic LCA5-related disorder, LCA5-related disorder
RS761896412 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS761896714 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Medulloblastoma
RS761897806 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS761899995 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS761902357 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS761902417 FBXL4 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS761905713 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS761905908 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS761906849 SIX1 Health Risk Likely pathogenic Branchiootic syndrome 3, Branchiootic syndrome 3
RS761906987 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS761907472 HAMP Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hereditary hemochromatosis
RS761907569 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Joubert syndrome
RS761907604 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS761908188 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS761909257 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS761909641 BCL11A Health Risk Pathogenic Inborn genetic diseases, Dias-Logan syndrome
RS761910746 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS761910924 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS761911005 MC2R Health Risk Likely pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 1
RS761911009 ELP1 Health Risk Pathogenic/Likely pathogenic Medulloblastoma, Familial dysautonomia
RS761911043 TTPA Health Risk Conflicting classifications of pathogenicity —
RS761911901 PROM1 Health Risk Pathogenic Retinitis pigmentosa 41, Retinal macular dystrophy type 2
RS761912885 DIAPH1 Health Risk Conflicting classifications of pathogenicity Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, Autosomal dominant nonsyndromic hearing loss 1
RS761913397 WT1 Health Risk Conflicting classifications of pathogenicity Meacham syndrome, Nephrotic syndrome
RS761913437 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS761913744 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS761915575 CNGA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS761915766 F5 Health Risk Likely pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS761916322 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal dominant form
RS761916499 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS761917087 SLC13A5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 25
RS761917566 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS761918179 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS761918535 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS761918801 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Osteopetrosis
RS761918906 TBC1D24 Health Risk Conflicting classifications of pathogenicity Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome, Inborn genetic diseases
RS761918916 TSHR Health Risk Pathogenic/Likely pathogenic Hypothyroidism due to TSH receptor mutations, Familial gestational hyperthyroidism
RS761919408 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS761919869 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS761921630 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS761921978 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS761922703 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS761922947 CTC1 Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS761923202 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS761923538 AARS2 Health Risk Likely pathogenic AARS2-related disorder, AARS2-related disorder
RS761924292 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS761925468 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS761926947 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS761927109 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Transient bullous dermolysis of the newborn
RS761927136 PHYH Health Risk Likely pathogenic Phytanic acid storage disease, Hepatocellular carcinoma
RS761928219 UNG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS761928661 ADAMTSL4 Health Risk Pathogenic —
RS761928936 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS761930376 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS761930694 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS761931081 AARS1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS761931092 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
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