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
RS1064793941 C2CD3 Health Risk Pathogenic —
RS1064793942 RNASEH2C Health Risk Likely pathogenic Aicardi-Goutieres syndrome 3, Aicardi-Goutieres syndrome 3
RS1064793943 FAT4 Health Risk Likely pathogenic —
RS1064793944 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1064793945 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1064793946 FBN1 Health Risk Pathogenic —
RS1064793947 SATB2 Health Risk Pathogenic —
RS1064793948 CTNNB1 Health Risk Pathogenic —
RS1064793951 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793952 RAD51D Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064793955 KAT6A Health Risk Pathogenic —
RS1064793956 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1064793957 ATM Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1064793958 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1064793959 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1064793962 CHD7 Health Risk Pathogenic —
RS1064793964 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS1064793967 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793969 APC Health Risk Pathogenic —
RS1064793972 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS1064793974 WAS Health Risk Pathogenic Thyroid cancer, nonmedullary
RS1064793975 KDM5C Health Risk Pathogenic —
RS1064793976 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1064793977 KRT5 Health Risk Pathogenic —
RS1064793978 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1064793979 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS1064793980 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064793981 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793983 DSG2 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS1064793984 STXBP1 Health Risk Pathogenic —
RS1064793985 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS1064793986 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1064793987 ADAR Health Risk Pathogenic —
RS1064793988 ASXL1 Health Risk Pathogenic —
RS1064793989 FBN1 Health Risk Pathogenic —
RS1064793990 PAFAH1B1 Health Risk Pathogenic —
RS1064793991 PTCH1 Health Risk Pathogenic —
RS1064793992 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1064793994 CHD7 Health Risk Pathogenic —
RS1064793995 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793996 CHD7 Health Risk Pathogenic —
RS1064793998 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS1064793999 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794000 KAT6A Health Risk Conflicting classifications of pathogenicity Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS1064794001 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1064794003 TMEM67 Health Risk Pathogenic —
RS1064794004 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794005 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, SCN2A-related generalized epilepsy with febrile seizures plus
RS1064794006 DYRK1A Health Risk Pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS1064794007 KMT2D Health Risk Pathogenic —
RS1064794009 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS1064794010 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064794012 MYO7A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Hearing loss
RS1064794013 MED13L Health Risk Pathogenic —
RS1064794014 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1064794016 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794017 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ovarian cancer
RS1064794018 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794019 CERT1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 34
RS1064794020 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1064794021 POGZ Health Risk Pathogenic —
RS1064794022 CNKSR2 Health Risk Pathogenic —
RS1064794023 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064794024 SMARCA2 Health Risk Pathogenic —
RS1064794025 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064794026 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1064794027 IL2RG Health Risk Likely pathogenic X-linked severe combined immunodeficiency, X-linked severe combined immunodeficiency
RS1064794028 MSH6 Health Risk Pathogenic —
RS1064794029 COL4A5 Health Risk Pathogenic —
RS1064794030 TBX5 Health Risk Pathogenic —
RS1064794031 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1064794033 NSD1 Health Risk Pathogenic —
RS1064794034 USH2A Health Risk Conflicting classifications of pathogenicity —
RS1064794035 USP9X Health Risk Pathogenic —
RS1064794036 CPAP Health Risk Likely pathogenic —
RS1064794037 VHL Health Risk Pathogenic —
RS1064794038 KANSL1 Health Risk Pathogenic —
RS1064794039 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064794040 CHD7 Health Risk Pathogenic —
RS1064794042 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1064794043 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064794044 DIAPH1 Health Risk Pathogenic —
RS1064794045 GNAS Health Risk Pathogenic —
RS1064794047 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064794048 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1064794050 IGF2 Health Risk Pathogenic Silver-Russell syndrome 1, Silver-Russell syndrome 1
RS1064794051 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1064794053 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1064794055 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064794057 BCAP31 Health Risk Pathogenic Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, Thyroid cancer
RS1064794058 COL1A2 Health Risk Pathogenic Osteogenesis imperfecta, COL1A2-related disorder
RS1064794059 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064794060 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064794062 TBX5 Health Risk Pathogenic —
RS1064794063 KCNQ2 Health Risk Pathogenic —
RS1064794064 FZD4 Health Risk Pathogenic —
RS1064794065 AR Health Risk Pathogenic —
RS1064794066 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1064794068 DDX3X Health Risk Pathogenic —
RS1064794069 AR Health Risk Pathogenic —
« Prev 1 ... 107 108 109 110 111 112 113 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →