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
RS541757069 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS541767003 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS541771140 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541778964 CYP4V2 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Bietti crystalline corneoretinal dystrophy
RS541782074 GATA3 Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism, deafness
RS541785316 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS541788902 AARS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease type 2
RS541798398 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541802498 IKZF1 Health Risk Conflicting classifications of pathogenicity Acute lymphoid leukemia, IKZF1-related disorder
RS541803470 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS541807210 ZDBF2 Health Risk Conflicting classifications of pathogenicity —
RS541811273 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS541817643 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS541818422 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS541826447 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS541833400 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS7-related disorder
RS541842635 FBN2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Congenital contractural arachnodactyly
RS541845688 ABCB6 Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS541848371 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS541850518 ABCA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541858922 IFNAR1 Health Risk Conflicting classifications of pathogenicity —
RS541860697 SEC23B Health Risk Pathogenic Congenital dyserythropoietic anemia, type II
RS541873542 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541896344 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS541901674 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS541905827 SC5D Health Risk Conflicting classifications of pathogenicity Lathosterolosis, Inborn genetic diseases
RS541908170 COL18A1 Health Risk Pathogenic/Likely pathogenic Knobloch syndrome 1, Knobloch syndrome 1
RS541910371 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Inborn genetic diseases
RS541915908 KCNK18 Health Risk Conflicting classifications of pathogenicity Migraine, with or without aura
RS541921137 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS541928674 COL6A3 Health Risk Conflicting classifications of pathogenicity Dystonia 27, Collagen 6-related myopathy
RS541930965 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS541931572 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS541932176 ATP13A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive spastic paraplegia type 78
RS541943893 SETD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Luscan-Lumish syndrome
RS541952457 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541961432 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS541967618 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, CACNA1C-related disorder
RS541980281 TRIOBP Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS541980846 VCP Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
RS541997223 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS542004766 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS542004893 SOX4 Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 10, Coffin-Siris syndrome 10
RS542014575 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS542021366 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS542026439 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS542032916 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS542036379 EYA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J
RS542036630 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS542053876 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS542056100 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS542057732 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Inborn genetic diseases
RS542059067 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS542063660 DDC Health Risk Pathogenic/Likely pathogenic Deficiency of aromatic-L-amino-acid decarboxylase, RASopathy
RS542064804 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS542074139 TTN Health Risk Likely pathogenic 6 conditions, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS542074777 ALOX12B Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS542079779 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS542081391 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, Inborn genetic diseases
RS542092025 COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS542092706 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS542099749 PCNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PCNT-related disorder
RS542109877 ACTA1 Health Risk Likely pathogenic Neuromuscular disease, Neuromuscular disease
RS542110883 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS542116747 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS542117712 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS542121054 HPD Health Risk Conflicting classifications of pathogenicity Tyrosinemia type III, Hawkinsinuria
RS542131017 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS542137271 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS542139125 VPS35 Health Risk Conflicting classifications of pathogenicity Parkinson disease 17, Parkinson disease 17
RS542144750 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS542149432 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS542156552 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS542159010 ACOX1 Health Risk Conflicting classifications of pathogenicity Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS542159073 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS542159390 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS542163407 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Familial cancer of breast
RS542169352 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS542170050 VWA1 Health Risk Conflicting classifications of pathogenicity —
RS542171324 SNCA Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 1, Lewy body dementia
RS542176164 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS542180384 PDE6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Retinal dystrophy
RS542180633 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS542182076 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS542184779 TRMT1 Health Risk Likely pathogenic Intellectual developmental disorder, autosomal recessive 68
RS542193860 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS542193901 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Coffin-Siris syndrome 5
RS542195636 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, CDHR1-related disorder
RS542200589 DDHD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 28
RS542204130 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS542206983 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS542209922 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS542213899 LAMA1 Health Risk Pathogenic/Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS542226383 VWF Health Risk Conflicting classifications of pathogenicity VWF-related disorder, VWF-related disorder
RS542228812 PEPD Health Risk Pathogenic Prolidase deficiency, Thyroid cancer
RS542229113 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS542237608 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS542237999 AMN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 2
RS542245214 SLC9A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory sodium diarrhea 8, Congenital secretory sodium diarrhea 8
RS542254849 FKBP14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type
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