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
RS777120827 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Febrile seizures
RS777120925 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 6B, Severe myoclonic epilepsy in infancy
RS777121421 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS777122776 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS777123723 XDH Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS777124179 CC2D1A Health Risk Pathogenic —
RS777124605 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777124854 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Cardiovascular phenotype
RS777125097 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS777126253 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS777127840 RPIA Health Risk Conflicting classifications of pathogenicity Deficiency of ribose-5-phosphate isomerase, Deficiency of ribose-5-phosphate isomerase
RS777128122 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS777128238 TSHR Health Risk Conflicting classifications of pathogenicity Familial hyperthyroidism due to mutations in TSH receptor, Hypothyroidism due to TSH receptor mutations
RS777129181 SLC9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital secretory sodium diarrhea 8
RS777130107 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS777131634 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS777132211 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS777133873 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS777135960 MED13 Health Risk Likely pathogenic —
RS77713666 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa
RS777137476 TMEM67 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS777137574 PHKA2 Health Risk Likely pathogenic Glycogen phosphorylase kinase deficiency, Glycogen phosphorylase kinase deficiency
RS777138745 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS777138837 SLC38A8 Health Risk Pathogenic Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome, Foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
RS777139450 TPM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS777139606 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS777139964 LEFTY2 Health Risk Conflicting classifications of pathogenicity —
RS777140914 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS777141916 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS777142166 DPAGT1 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS777143531 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 48
RS777143614 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS777145283 TET2 Health Risk Pathogenic —
RS777146364 HGSNAT Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 73, Mucopolysaccharidosis
RS777146629 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Greenberg dysplasia
RS777146957 PINK1 Health Risk Likely pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS777148033 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS777148254 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency
RS777148695 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS777148718 IGHMBP2 Health Risk Pathogenic —
RS777149216 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS777149559 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS777149755 TUBB3 Health Risk Likely pathogenic Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS777150332 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS777153067 ORC6 Health Risk Pathogenic Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS777153382 HADHA Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
RS777154728 KCNV2 Health Risk Likely pathogenic —
RS777155836 MYO5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777156156 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777156729 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS777158229 CC2D2A Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS777158800 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease
RS777158966 C9 Health Risk Pathogenic/Likely pathogenic C9-related disorder, C9-related disorder
RS777159320 MYH3 Health Risk Conflicting classifications of pathogenicity —
RS777159610 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS777159874 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS777160388 PINK1 Health Risk Pathogenic Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS777162250 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS777163637 MRPS22 Health Risk Conflicting classifications of pathogenicity Hypotonia with lactic acidemia and hyperammonemia, Hypotonia with lactic acidemia and hyperammonemia
RS777163859 TMCO1 Health Risk Likely pathogenic —
RS777164338 PGM1 Health Risk Pathogenic/Likely pathogenic PGM1-congenital disorder of glycosylation, PGM1-related disorder
RS777165274 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS777165286 FSHR Health Risk Pathogenic —
RS777166186 TSHR Health Risk Pathogenic —
RS777166275 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS777166781 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS777167473 PHEX Health Risk Conflicting classifications of pathogenicity —
RS777167537 DNAH9 Health Risk Likely pathogenic —
RS777167646 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS777167901 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS777168556 GRM6 Health Risk Likely pathogenic Congenital stationary night blindness, Congenital stationary night blindness
RS777168937 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Inborn genetic diseases
RS777170937 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS777172185 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
RS777172456 ELP1 Health Risk Pathogenic/Likely pathogenic —
RS777172978 COL6A2 Health Risk Pathogenic Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A
RS777173010 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS777173465 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS777174159 NFE2L2 Health Risk Conflicting classifications of pathogenicity —
RS777175509 ITGB4 Health Risk Pathogenic —
RS777175618 TRIOBP Health Risk Conflicting classifications of pathogenicity TRIOBP-related disorder, TRIOBP-related disorder
RS777176261 BIN1 Health Risk Pathogenic/Likely pathogenic Myopathy, centronuclear
RS777176324 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS777179811 OPA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS777179922 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS777180869 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS777181377 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS777181948 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS777182182 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS777182592 SETX Health Risk Conflicting classifications of pathogenicity Distal spinal muscular atrophy, Amyotrophic lateral sclerosis type 4
RS777183511 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal dominant polycystic liver disease
RS777184216 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS777184414 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS777184451 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS777185638 PRORP Health Risk Pathogenic/Likely pathogenic 6 conditions, Combined oxidative phosphorylation deficiency 54
RS777186025 DNAJB13 Health Risk Pathogenic —
RS777186156 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS777186938 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS777186958 CDH3 Health Risk Likely pathogenic —
RS777187629 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
« Prev 1 ... 3635 3636 3637 3638 3639 3640 3641 ... 4509 Next »

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

Get Started Free →