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
RS181901181 RASGRP2 Health Risk Conflicting classifications of pathogenicity RASGRP2-related disorder, RASGRP2-related disorder
RS181902304 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS181905023 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS1819058509 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1819058900 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1819059889 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS181906086 CAPN14 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS181911949 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS1819149009 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1819174200 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS181919231 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS181923062 ACAN Health Risk Pathogenic —
RS181923135 ATF6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS181925915 CDC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, CDC6-related disorder
RS181927766 CHD7 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 5 with or without anosmia, CHARGE syndrome
RS181927900 PKD1 Health Risk Conflicting classifications of pathogenicity —
RS181942192 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS181942292 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS181943893 CTSA Health Risk Conflicting classifications of pathogenicity Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS181949335 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 8
RS181951458 TACR3 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 11 with or without anosmia, Hypogonadotropic hypogonadism 11 with or without anosmia
RS1819520149 MAFA Health Risk Pathogenic Islet cell adenomatosis, Islet cell adenomatosis
RS1819528679 SMARCA2 Health Risk Likely pathogenic Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome
RS181952966 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal dominant Alport syndrome
RS181955833 MCIDAS Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Ciliary dyskinesia
RS181957743 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS181958589 AGBL1 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Fuchs endothelial
RS181961360 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS181961566 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS181961770 FSCN2 Health Risk Conflicting classifications of pathogenicity —
RS1819628292 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Inborn genetic diseases
RS181963253 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS181967284 ARMC5 Health Risk Likely pathogenic ACTH-independent macronodular adrenal hyperplasia 2, ACTH-independent macronodular adrenal hyperplasia 2
RS181968345 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1819683853 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1819691962 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1819693631 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS181969865 TBCD Health Risk Pathogenic/Likely pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS1819702000 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1819703656 CDKN2A Health Risk Likely pathogenic Melanoma-pancreatic cancer syndrome, Familial melanoma
RS181970528 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1819713922 CDKN2A Health Risk Likely pathogenic Lip and oral cavity carcinoma, Embryonal rhabdomyosarcoma
RS1819719137 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1819719250 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1819724486 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1819724531 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1819725713 CDKN2A Health Risk Pathogenic Melanoma-pancreatic cancer syndrome, Melanoma-pancreatic cancer syndrome
RS1819734528 IFT74 Health Risk Pathogenic —
RS181974243 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 45
RS1819764921 TG Health Risk Pathogenic —
RS1819768982 KCNV2 Health Risk Likely pathogenic Cone dystrophy with supernormal rod response, Cone dystrophy with supernormal rod response
RS1819772981 KCNV2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1819778559 KCNV2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1819778622 KCNV2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1819787095 KCNV2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1819797791 KCNV2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1819797955 KCNV2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1819804753 CDKN2A Health Risk Conflicting classifications of pathogenicity CDKN2A-related disorder, Melanoma-pancreatic cancer syndrome
RS181980598 CSMD1 Health Risk Conflicting classifications of pathogenicity —
RS1819808781 KCNV2 Health Risk Pathogenic —
RS181983734 GSTT2 Health Risk Likely pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1819856886 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS181988132 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS181989563 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS181989786 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS181990057 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1819903817 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS181991723 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS1819924865 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1819949737 CDKN2A Health Risk Pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS181995380 CLN3 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS1819961127 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1819962958 CDKN2A Health Risk Pathogenic Familial melanoma, Familial melanoma
RS1819968085 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS181998151 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS1819990660 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS182003715 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS1820043726 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS182004440 TRPM2 Health Risk Conflicting classifications of pathogenicity —
RS182004703 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS182004761 ZNF674 Health Risk Conflicting classifications of pathogenicity ZNF674-related disorder, ZNF674-related disorder
RS1820048488 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS1820085287 FGFR1 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 2 with or without anosmia, Hypogonadotropic hypogonadism 2 with or without anosmia
RS182009600 CNTNAP5 Health Risk Conflicting classifications of pathogenicity —
RS182015909 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS182018947 CEP152 Health Risk Pathogenic/Likely pathogenic Microcephaly 9, primary
RS182019347 PIDD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS182021224 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS182024561 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS182027704 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, AFF4-related disorder
RS182028200 BRIP1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS182039780 GOSR2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS182045135 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Holoprosencephaly 7
RS182048899 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS182049871 NME5 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS182050752 SCN5A Health Risk Conflicting classifications of pathogenicity Progressive familial heart block, type 1A
RS1820512673 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1820525500 CDKN2A Health Risk Likely pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS1820526139 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1820527497 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
« Prev 1 ... 1260 1261 1262 1263 1264 1265 1266 ... 4509 Next »

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

Get Started Free →