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
RS767905829 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS767906231 FUS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767906723 TP63 Health Risk Conflicting classifications of pathogenicity TP63-Related Spectrum Disorders, 8 conditions
RS767907022 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS767907056 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS767907460 DNAJC21 Health Risk Pathogenic —
RS767907487 ACP4 Health Risk Pathogenic Amelogenesis imperfecta, type 1J
RS767907933 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS767908363 NBAS Health Risk Pathogenic/Likely pathogenic Short stature-optic atrophy-Pelger-Huët anomaly syndrome, Infantile liver failure syndrome 2
RS767908478 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS767908962 CC2D1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767910207 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, Oculocutaneous albinism type 4
RS767910783 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS767910888 SRP72 Health Risk Conflicting classifications of pathogenicity —
RS767911747 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 10
RS767911847 HBA1 Health Risk Pathogenic/Likely pathogenic alpha Thalassemia, Hemoglobin H disease
RS767912817 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS767913083 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Inborn genetic diseases
RS767913372 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS767913658 CNOT3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS767914340 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS767914998 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Hypoplastic aortic arch
RS767916069 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS767916187 SLC52A3 Health Risk Pathogenic Brown-Vialetto-van Laere syndrome 1, Brown-Vialetto-van Laere syndrome 1
RS767916602 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiovascular phenotype
RS767916903 SLC4A1 Health Risk Conflicting classifications of pathogenicity —
RS767918557 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS767918800 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS767918859 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Vitreoretinopathy
RS767919855 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS767920190 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS767921776 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiac arrhythmia
RS767924789 RAG2 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS767925162 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS76792613 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Ehlers-Danlos syndrome
RS767926590 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS767926913 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS767927162 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS767927599 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS76792774 PAX8 Health Risk Conflicting classifications of pathogenicity Hypothyroidism, congenital
RS767928113 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS767928662 CFAP20 Health Risk Likely pathogenic Rod-cone dystrophy, Rod-cone dystrophy
RS767928766 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS767929561 ATL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS767930085 TCF20 Health Risk Conflicting classifications of pathogenicity Developmental delay with variable intellectual impairment and behavioral abnormalities, Developmental delay with variable intellectual impairment and behavioral abnormalities
RS767931569 TMPRSS3 Health Risk Conflicting classifications of pathogenicity —
RS767931599 LAMB3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767932162 SPEN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767932262 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767933078 EIF2B2 Health Risk Likely pathogenic Leukoencephalopathy with vanishing white matter 2, Vanishing white matter disease
RS767934760 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS767935511 MYO15A Health Risk Pathogenic —
RS767936611 TGFB2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 4
RS767936906 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS767939328 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS767939332 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS767940514 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS767941347 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS767941627 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS767941878 CARMIL2 Health Risk Pathogenic/Likely pathogenic —
RS767943611 LAMA1 Health Risk Pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS767943814 SIL1 Health Risk Pathogenic Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS767943869 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS767943997 ITGA7 Health Risk Likely pathogenic —
RS76794400 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS767945732 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS767946220 GNAS Health Risk Likely pathogenic —
RS767946427 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS767946490 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Inborn genetic diseases
RS767947292 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS767947665 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS767949889 SLC33A1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS767950930 MCOLN1 Health Risk Pathogenic/Likely pathogenic Mucolipidosis type IV, Lisch epithelial corneal dystrophy
RS767952378 THAP1 Health Risk Likely pathogenic Torsion dystonia 6, Inborn genetic diseases
RS767952510 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1B-related disorder
RS767952525 FLT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767956335 APPL1 Health Risk Conflicting classifications of pathogenicity —
RS767956337 FARSB Health Risk Pathogenic/Likely pathogenic Rajab interstitial lung disease with brain calcifications, Rajab interstitial lung disease with brain calcifications 1
RS767958103 SMG9 Health Risk Likely pathogenic —
RS767958264 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767958353 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS767958539 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS767958893 KMT2E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767959957 STAT5B Health Risk Pathogenic Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
RS767960522 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS767961179 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS767961672 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS767963898 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS767964268 SPEN Health Risk Pathogenic Radio-Tartaglia syndrome, Radio-Tartaglia syndrome
RS767964776 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS767965347 RASGRP2 Health Risk Pathogenic Platelet-type bleeding disorder 18, Platelet-type bleeding disorder 18
RS767965414 TTC7A Health Risk Pathogenic/Likely pathogenic Gastrointestinal defect and immunodeficiency syndrome, Multiple gastrointestinal atresias
RS767966376 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS767966419 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS767967099 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS767967824 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS767968866 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS767969074 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS767969927 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS767970248 KCNK4 Health Risk Conflicting classifications of pathogenicity —
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