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
RS758775001 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS758775510 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS758777360 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS758777521 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS758777622 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS758777667 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS758779535 GNAO1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS758780152 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS758780409 SEC23B Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type II
RS758782896 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS758784148 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS758784613 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS758784870 SLC26A3 Health Risk Pathogenic —
RS758785463 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS758786611 MUC1 Health Risk Conflicting classifications of pathogenicity MUC1-related disorder, Inborn genetic diseases
RS758786727 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS758786811 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS758786846 CACNA1C Health Risk Likely pathogenic Cardiovascular phenotype, Long QT syndrome
RS758787267 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS758788067 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS758788078 USH2A Health Risk Pathogenic —
RS758788135 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS758790126 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS758790200 RECQL4 Health Risk Pathogenic/Likely pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS758791315 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS758791658 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Intellectual disability
RS758792385 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Intellectual disability
RS758793075 SGSH Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS758793150 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758794256 SOST Health Risk Conflicting classifications of pathogenicity Sclerosteosis 1, Sclerosteosis 1
RS758794885 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS758794919 EIF2B1 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS758795356 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS758795405 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS758795722 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS758795961 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS758796005 FASLG Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
RS758796613 COL11A2 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS758797771 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Wolman disease
RS758797992 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS758798716 GHRHR Health Risk Pathogenic/Likely pathogenic Isolated growth hormone deficiency, type 4
RS758799742 TTN Health Risk Conflicting classifications of pathogenicity —
RS758800042 SYNE4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 76, Autosomal recessive nonsyndromic hearing loss 76
RS758800351 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS758800414 NALCN Health Risk Likely pathogenic —
RS758800773 BRWD3 Health Risk Pathogenic —
RS758801322 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome type 1
RS758802517 DCDC2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
RS758805438 TMEM218 Health Risk Pathogenic Meckel syndrome, type 4
RS758805619 MLPH Health Risk Conflicting classifications of pathogenicity MLPH-related disorder, MLPH-related disorder
RS758806135 IKBKB Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to IKK2 deficiency, Inborn genetic diseases
RS758806789 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS758807774 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS758807897 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS758809498 GRM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 13, Autosomal recessive spinocerebellar ataxia 13
RS758811078 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS758811159 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Myopathy
RS758811460 GLRA1 Health Risk Pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS758812102 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS758813493 SGCA Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS758813812 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS758813821 ZIC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS758813974 OXCT1 Health Risk Pathogenic Succinyl-CoA acetoacetate transferase deficiency, Succinyl-CoA acetoacetate transferase deficiency
RS758814013 FA2H Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 35, Spastic paraplegia
RS758814126 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS758814313 GNE Health Risk Likely pathogenic GNE myopathy, GNE myopathy
RS758814921 AARS2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS758815341 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS758815860 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS758816489 CLCN7 Health Risk Conflicting classifications of pathogenicity —
RS758817184 CIC Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 45
RS758818850 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, ZTTK syndrome
RS758820425 IFT80 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS758820636 PCNT Health Risk Conflicting classifications of pathogenicity —
RS758821239 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS758821769 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS758822531 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS758823761 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS758824243 HECW2 Health Risk Conflicting classifications of pathogenicity —
RS758824583 KDM5B Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS758825857 COL11A1 Health Risk Conflicting classifications of pathogenicity Intervertebral disc disorder, Fibrochondrogenesis 1
RS758827458 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrullinemia
RS758827956 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS758828226 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS758828358 LMBR1L Health Risk Likely pathogenic DSD incomplete virilization, DSD incomplete virilization
RS758829036 CFD Health Risk Conflicting classifications of pathogenicity —
RS758829443 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS758830069 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS758830540 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS758830997 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Ceroid lipofuscinosis
RS758831068 P4HTM Health Risk Likely pathogenic Hypotonia, hypoventilation
RS758831525 RP1L1 Health Risk Likely pathogenic —
RS758831830 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS758832729 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS758833609 NDUFA6 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 33
RS758834029 ADGRV1 Health Risk Pathogenic Rare genetic deafness, Rare genetic deafness
RS758834729 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS758835278 CFAP410 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS758835308 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS758835368 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, ABCA4-related disorder
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