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
RS145986413 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS145986556 NECTIN1 Health Risk Conflicting classifications of pathogenicity Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS145986920 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS1459871246 MAK Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1459871632 GATA6 Health Risk Pathogenic —
RS145988012 C2 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 14, Complement component 2 deficiency
RS145988146 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS145988230 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia
RS1459883720 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS145988918 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, CREBBP-related disorder
RS145989158 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS145989421 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS145989550 BCS1L Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
RS1459899547 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS145991142 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Autoinflammatory syndrome
RS145991322 POLR3B Health Risk Conflicting classifications of pathogenicity See cases, POLR3B-related disorder
RS145991345 GLE1 Health Risk Pathogenic —
RS145991486 NBAS Health Risk Likely pathogenic —
RS145993678 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS1459939417 NEB Health Risk Likely pathogenic Arthrogryposis multiplex congenita 6, Nemaline myopathy
RS145994096 KDF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145994112 SLC2A10 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Arterial tortuosity syndrome
RS1459943483 ADGRV1 Health Risk Pathogenic —
RS1459943941 CAPN3 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS145994565 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS145994616 MFN2 Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy with optic atrophy, Charcot-Marie-Tooth disease type 2
RS145995735 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS1459958084 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis, Meckel syndrome
RS145996171 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS145996577 GDNF Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS145997327 GPSM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, GPSM2-related disorder
RS1459973740 PYROXD1 Health Risk Pathogenic —
RS1459993484 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS145999491 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, IVD-related disorder
RS145999595 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, OPA1-related disorder
RS145999922 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS145999978 DSE Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type 2
RS1460001890 ABCA3 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS146000214 DYM Health Risk Conflicting classifications of pathogenicity DYM-related disorder, DYM-related disorder
RS1460006418 NLGN3 Health Risk Likely pathogenic Autism, susceptibility to
RS1460006727 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS146000949 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS146002078 ABCA12 Health Risk Conflicting classifications of pathogenicity —
RS146002320 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS146002530 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS1460026299 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS146003075 OPA1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant optic atrophy classic form, Inborn genetic diseases
RS1460031293 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS146004919 TNFAIP3 Health Risk Conflicting classifications of pathogenicity —
RS146005902 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146006663 FLT4 Health Risk Pathogenic/Likely pathogenic Congenital heart defects, multiple types
RS146006741 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1460077934 STAR Health Risk Pathogenic —
RS146008079 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, SLC4A4-related disorder
RS146009793 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Inborn genetic diseases
RS1460103880 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome
RS146010731 WNT10B Health Risk Conflicting classifications of pathogenicity —
RS146011049 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS146011150 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Intellectual disability
RS1460112018 DOK7 Health Risk Likely pathogenic Fetal akinesia deformation sequence 3, Congenital myasthenic syndrome 10
RS146011912 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS146011929 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS1460119539 SLC12A3 Health Risk Likely pathogenic —
RS146011965 CYP26B1 Health Risk Conflicting classifications of pathogenicity —
RS1460129668 EMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, X-linked Emery-Dreifuss muscular dystrophy
RS146013446 PPA2 Health Risk Pathogenic/Likely pathogenic Sudden cardiac failure, infantile
RS146013879 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1460147564 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS146014987 NOTCH2 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS146015223 HDAC8 Health Risk Pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS146015592 BTD Health Risk Pathogenic Biotinidase deficiency, Inborn genetic diseases
RS146015856 DNAAF19 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 17
RS1460159434 DUOX2 Health Risk Pathogenic —
RS1460165646 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS146017595 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS146017810 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS146017981 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS1460180114 MTRFR Health Risk Pathogenic Spastic paraplegia, Combined oxidative phosphorylation defect type 7
RS146018013 LAMB1 Health Risk Conflicting classifications of pathogenicity —
RS146018199 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1460187564 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS1460188868 LAMP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Danon disease
RS1460194406 CDAN1 Health Risk Conflicting classifications of pathogenicity —
RS1460194680 SPEN Health Risk Conflicting classifications of pathogenicity Developmental disorder, Radio-Tartaglia syndrome
RS1460197813 NUS1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation, type IAA
RS1460199079 DNAH9 Health Risk Pathogenic —
RS146020545 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Primary dilated cardiomyopathy
RS1460210127 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS146021397 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MACF1-related disorder
RS146022050 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS146022149 KRT5 Health Risk Conflicting classifications of pathogenicity KRT5-related disorder, KRT5-related disorder
RS146022334 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS146022384 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146023695 XPNPEP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS1460236999 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS146024341 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS146024580 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS1460246415 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1460246826 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1460246967 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
« Prev 1 ... 639 640 641 642 643 644 645 ... 4509 Next »

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

Get Started Free →