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
RS1057521085 ALPL Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Adult hypophosphatasia
RS1057521087 FUCA1 Health Risk Likely pathogenic —
RS1057521090 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Fibrotic kidney disease
RS1057521091 STAT3 Health Risk Pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1057521092 GCK Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young type 2
RS1057521093 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS1057521094 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, GCK-related disorder
RS1057521095 VDR Health Risk Likely pathogenic Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS1057521096 MITF Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 2A, Melanoma
RS1057521097 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS1057521098 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1057521100 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057521101 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1057521102 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057521103 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1057521104 PLA2G6 Health Risk Likely pathogenic —
RS1057521105 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS1057521106 COL3A1 Health Risk Pathogenic Ehlers-Danlos syndrome, type 4
RS1057521108 TCOF1 Health Risk Pathogenic/Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1057521110 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS1057521111 MEN1 Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 1
RS1057521112 RHO Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1057521113 SMARCA4 Health Risk Likely pathogenic —
RS1057521114 ACADM Health Risk Likely pathogenic —
RS1057521115 ASPA Health Risk Pathogenic/Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS1057521116 BTK Health Risk Likely pathogenic —
RS1057521117 ACTA1 Health Risk Pathogenic ACTA1 gene related myopathy, Actin accumulation myopathy
RS1057521118 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1057521119 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1057521120 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Progressive scapulohumeroperoneal distal myopathy
RS1057521121 AR Health Risk Likely pathogenic —
RS1057521122 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS1057521126 HMBS Health Risk Pathogenic/Likely pathogenic —
RS1057521127 CD40LG Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1057521128 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS1057521129 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1057521130 COMP Health Risk Pathogenic/Likely pathogenic —
RS1057521131 EDA Health Risk Pathogenic/Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1057521132 EXT2 Health Risk Pathogenic Exostoses, multiple
RS1057521133 IRF6 Health Risk Likely pathogenic —
RS1057521135 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1057521137 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS1057521138 IKBKG Health Risk Pathogenic —
RS1057521140 KRIT1 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation, KRIT1-related disorder
RS1057521141 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1057521142 NSD1 Health Risk Likely pathogenic —
RS1057521143 PHEX Health Risk Pathogenic —
RS1057521144 PHEX Health Risk Pathogenic Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS1057521145 SALL4 Health Risk Pathogenic —
RS1057521146 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS1057521147 SLC26A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Pendred syndrome
RS1057521149 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1057521150 TGFB2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 4, Familial thoracic aortic aneurysm and aortic dissection
RS1057521151 DPAGT1 Health Risk Pathogenic/Likely pathogenic DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS1057521152 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1057521153 COLQ Health Risk Likely pathogenic —
RS1057521154 CLCNKB Health Risk Likely pathogenic —
RS1057521155 SLC40A1 Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS1057521162 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1057521166 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1057521167 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1057521174 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1057521175 DDX3X Health Risk Pathogenic —
RS1057521176 POLR3A Health Risk Likely pathogenic —
RS1057521178 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS1057521184 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1057521203 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1057521205 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS1057521207 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1057521211 FBN1 Health Risk Likely pathogenic —
RS1057521223 SCN2A Health Risk Likely pathogenic —
RS1057521224 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1057521233 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1057521238 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1057521243 PAFAH1B1 Health Risk Likely pathogenic —
RS1057521250 TUBB2A Health Risk Conflicting classifications of pathogenicity See cases, Complex cortical dysplasia with other brain malformations 5
RS1057521251 CCNQ Health Risk Likely pathogenic —
RS1057521256 PCDH19 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 9
RS1057521267 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS1057521291 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057521317 CSTB Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Unverricht-Lundborg syndrome
RS1057521321 DMD Health Risk Conflicting classifications of pathogenicity —
RS1057521325 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1057521355 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS1057521358 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057521374 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1057521378 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1057521396 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
RS1057521423 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1057521425 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS1057521452 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1057521475 CHM Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1057521489 PLCB4 Health Risk Likely pathogenic —
RS1057521506 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1057521516 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1057521530 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1057521537 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057521551 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1057521554 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS1057521558 CREBBP Health Risk Conflicting classifications of pathogenicity —
« Prev 1 ... 74 75 76 77 78 79 80 ... 4509 Next »

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

Get Started Free →