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
RS370706928 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, COL4A4-related disorder
RS370706991 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 15
RS370708663 FECH Health Risk Pathogenic/Likely pathogenic Protoporphyria, erythropoietic
RS370708814 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS370708976 MYO1A Health Risk Conflicting classifications of pathogenicity —
RS370709104 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS370709283 TSHR Health Risk Conflicting classifications of pathogenicity Hypothyroidism due to TSH receptor mutations, Familial hyperthyroidism due to mutations in TSH receptor
RS370709860 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiomyopathy
RS370710857 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS370710933 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370711366 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS370712489 POU4F3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 15, Hearing impairment
RS370713047 GRK1 Health Risk Likely pathogenic Oguchi disease-2, Oguchi disease-2
RS370713361 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS370713742 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Ovarian cancer
RS370714315 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS370715569 CLASP1;CLASP1-AS1;RNU4ATAC Health Risk Conflicting classifications of pathogenicity Roifman syndrome, Spondyloepiphyseal dysplasia congenita
RS370716086 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS370716101 BBS7 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS370716448 TP63 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 8, Ectrodactyly
RS370717845 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS370718225 DPYS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dihydropyrimidinase deficiency
RS370718676 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS370719148 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS370719592 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS370720208 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, ACAT1-related disorder
RS370720753 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS370721218 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C
RS370721283 MRPS16 Health Risk Conflicting classifications of pathogenicity —
RS370722609 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS370722814 POLR1A Health Risk Conflicting classifications of pathogenicity —
RS370723514 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS370724082 CDH3 Health Risk Likely pathogenic —
RS370724350 HBB Health Risk Conflicting classifications of pathogenicity —
RS370726273 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS370726988 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS370727908 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS370728359 TTN Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS370728413 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS370728528 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS370729174 TNNT2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 2, Cardiomyopathy
RS370729240 DCT Health Risk Pathogenic/Likely pathogenic Albinism, Oculocutaneous albinism type 8
RS370729939 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 9, Bardet-Biedl syndrome 9
RS370730786 OTOGL Health Risk Likely pathogenic OTOGL-related disorder, Inborn genetic diseases
RS370731374 GRIA4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with or without seizures and gait abnormalities
RS370732306 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS370733145 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS370733242 ATG2A Health Risk Conflicting classifications of pathogenicity —
RS370734738 TBC1D8B Health Risk Conflicting classifications of pathogenicity —
RS370734976 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS370735089 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS370735674 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS370736139 RET Health Risk Conflicting classifications of pathogenicity Aganglionic megacolon, Multiple endocrine neoplasia
RS370736173 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS370737113 F8 Health Risk Conflicting classifications of pathogenicity Thrombophilia, X-linked
RS370737241 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370738145 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS370738668 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS370738954 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370738961 PROKR2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS370740228 MYO7A Health Risk Conflicting classifications of pathogenicity MYO7A-related disorder, MYO7A-related disorder
RS370740757 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370744140 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS370745462 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370745843 CEP152 Health Risk Pathogenic Inborn genetic diseases, Microcephaly 9
RS370746437 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS370746571 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370746809 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS370746889 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS370747086 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS370748662 SPTAN1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Early-infantile DEE
RS370749106 CNNM2 Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 6, Renal hypomagnesemia 6
RS370750044 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy
RS370750890 SLC11A2 Health Risk Conflicting classifications of pathogenicity Microcytic anemia with liver iron overload, Microcytic anemia with liver iron overload
RS370752481 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS370752614 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS370752980 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS370754278 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS370754319 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS370754960 KIF2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370755303 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS370755364 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS370756871 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS370757303 RAX2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 11, Age related macular degeneration 6
RS370757757 ERCC6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS370757762 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Cardiovascular phenotype
RS370757859 CDAN1 Health Risk Conflicting classifications of pathogenicity Anemia, congenital dyserythropoietic
RS370757950 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS370758397 PDE6B Health Risk Pathogenic Retinitis pigmentosa 40, Retinitis pigmentosa
RS370759512 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS370759790 KRT4 Health Risk Conflicting classifications of pathogenicity White sponge nevus 1, Inborn genetic diseases
RS370760271 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS370760999 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS370761057 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS370761101 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS370762205 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS370762269 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS370762371 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS370763473 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS370763975 PIGH Health Risk Conflicting classifications of pathogenicity Glycosylphosphatidylinositol biosynthesis defect 17, Inborn genetic diseases
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