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
RS572139897 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS572143624 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Inborn genetic diseases
RS572145631 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS572147914 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Intellectual disability
RS572162678 OTOF Health Risk Pathogenic —
RS572169140 PHKG2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXc, Glycogen storage disease IXc
RS572175190 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Cardiovascular phenotype
RS57218384 KRT12 Health Risk Pathogenic Corneal dystrophy, Meesmann
RS572189652 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 25
RS572193350 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS572195368 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS572198981 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrin deficiency
RS572217007 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS572224582 ABCC2 Health Risk Pathogenic ABCC2-related disorder, ABCC2-related disorder
RS572234918 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS572237881 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis type 2, Infantile GM1 gangliosidosis
RS572245704 SLC40A1 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 4, Hemochromatosis type 4
RS572246667 PCCB Health Risk Pathogenic Propionic acidemia, Inborn genetic diseases
RS572247741 GATA5 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, multiple types
RS572249702 MAGEL2 Health Risk Conflicting classifications of pathogenicity Schaaf-Yang syndrome, Inborn genetic diseases
RS572252265 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS57225302 CACNA1G Health Risk Conflicting classifications of pathogenicity CACNA1G-related disorder, Inborn genetic diseases
RS572266444 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS572271008 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia
RS572272864 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS572274623 PTPN11 Health Risk Conflicting classifications of pathogenicity Cardio-facio-cutaneous syndrome, RASopathy
RS572274912 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Piebaldism
RS572283380 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS572286559 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS572289342 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS572289637 LAMB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pierson syndrome
RS572292275 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, See cases
RS572295823 CD36 Health Risk Pathogenic/Likely pathogenic Platelet-type bleeding disorder 10, Coronary heart disease
RS572300575 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS572301723 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS572307337 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS572314014 ORC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 3, Uterine corpus endometrial carcinoma
RS572321857 PCNT Health Risk Conflicting classifications of pathogenicity —
RS572322476 DNAAF2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS572323939 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Inborn genetic diseases
RS572324497 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS572328358 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS572331982 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS572336612 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS572337036 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS572340007 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS572340170 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS572342520 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ASXL2-related disorder
RS572345625 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS572349637 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572359740 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS572367422 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS572380012 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
RS572380130 SAMD9 Health Risk Conflicting classifications of pathogenicity Normophosphatemic familial tumoral calcinosis, Normophosphatemic familial tumoral calcinosis
RS572384303 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS572393115 UNC80 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572394429 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS572396211 CACNA2D4 Health Risk Conflicting classifications of pathogenicity CACNA2D4-related disorder, CACNA2D4-related disorder
RS572402167 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS572405590 ABCA1 Health Risk Conflicting classifications of pathogenicity ABCA1-related disorder, ABCA1-related disorder
RS572413728 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS572414111 KRIT1 Health Risk Conflicting classifications of pathogenicity Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
RS572425083 FKBP10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS572431474 TELO2 Health Risk Pathogenic —
RS572438339 ADSL Health Risk Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS572439259 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
RS572440259 CCDC40 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS572443869 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis
RS572444748 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS572451257 ACTN4 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, Inborn genetic diseases
RS572455524 TUBB8 Health Risk Conflicting classifications of pathogenicity Oocyte maturation defect 2, Oocyte maturation defect 2
RS572468560 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS57246956 ELANE Health Risk Pathogenic Neutropenia, severe congenital
RS572474708 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5
RS572478240 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 16
RS572481168 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS572486885 NAXE Health Risk Pathogenic —
RS572499557 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS572502366 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS572512247 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS572516017 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS572521227 NPAT Health Risk Conflicting classifications of pathogenicity —
RS572522263 CPOX Health Risk Conflicting classifications of pathogenicity Hereditary coproporphyria, Inborn genetic diseases
RS572523462 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS572527340 TEK Health Risk Conflicting classifications of pathogenicity Multiple cutaneous and mucosal venous malformations, TEK-related disorder
RS572532426 TSFM Health Risk Pathogenic —
RS572545726 SNTA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS572564322 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS572571832 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS572579351 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS572584581 CEP55 Health Risk Pathogenic Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome, Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
RS572587594 VWA1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS572600030 ETFB Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, ETFB-related disorder
RS572604704 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS572605877 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS572613522 PRPH2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy, Pigmentary retinal dystrophy
RS572618111 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS572619478 ACAD8 Health Risk Pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS572620317 SLC2A10 Health Risk Pathogenic/Likely pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS57262206 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, SLC22A5-related disorder
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