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
RS757735473 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS757735624 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS757735668 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis
RS757735681 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS757736155 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS757736220 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS757736882 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757737346 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS757737676 SALL1 Health Risk Conflicting classifications of pathogenicity Congenital anomaly of kidney and urinary tract, Townes syndrome
RS757738553 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Meckel syndrome
RS757738828 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Intellectual disability
RS757740068 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 12
RS757740647 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757740736 SLMAP Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Brugada syndrome
RS757740787 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS757743255 F7 Health Risk Likely pathogenic Factor VII deficiency, Factor VII deficiency
RS757743894 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS757744079 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS757744162 VAPB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Amyotrophic lateral sclerosis type 8
RS757744435 NPR2 Health Risk Likely pathogenic Growth delay, Limb undergrowth
RS757745087 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS757745239 MYO5B Health Risk Likely pathogenic Congenital microvillous atrophy, Cholestasis
RS757747543 RBBP8 Health Risk Conflicting classifications of pathogenicity Jawad syndrome, Seckel syndrome 2
RS757748207 AUH Health Risk Likely pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS757748286 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Chromosome 2p16.3 deletion syndrome
RS757748748 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS757748764 CIB2 Health Risk Pathogenic —
RS757749585 HERC1 Health Risk Likely pathogenic —
RS757749973 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS757750438 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS757750599 TMEM222 Health Risk Pathogenic Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities, Neurodevelopmental disorder with motor and speech delay and behavioral abnormalities
RS757751684 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS757752536 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS757753217 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS757753448 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS757753783 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757753880 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS757754120 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS757754183 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS757754363 EYA1 Health Risk Conflicting classifications of pathogenicity Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS757755172 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS757756141 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS757757289 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS757759451 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS757759802 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS757760067 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS757761069 SLC12A3 Health Risk Likely pathogenic —
RS757761868 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS757762109 PYGM Health Risk Pathogenic Glycogen storage disease, type V
RS757763630 ARMC9 Health Risk Likely pathogenic —
RS757764760 RGS9BP Health Risk Conflicting classifications of pathogenicity Prolonged electroretinal response suppression 2, Prolonged electroretinal response suppression 2
RS757766496 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS757766498 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS757767434 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Inborn genetic diseases
RS757768731 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS757770040 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS757771239 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS757771711 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, BRIP1-related disorder
RS757771793 ALPL Health Risk Likely pathogenic Hypophosphatasia, Adult hypophosphatasia
RS757772764 CEP104 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 25, Intellectual developmental disorder
RS757772975 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757774354 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS757774648 FAT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 2
RS757774756 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS757776087 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
RS757776373 CNKSR2 Health Risk Conflicting classifications of pathogenicity —
RS757776405 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757776621 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS757776893 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS757778351 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS757778790 FLVCR2 Health Risk Conflicting classifications of pathogenicity Posterior column ataxia-retinitis pigmentosa syndrome, Posterior column ataxia-retinitis pigmentosa syndrome
RS757778880 RARS2 Health Risk Likely pathogenic Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 6
RS757780731 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS757781272 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS757782326 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS757782702 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS757782924 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS757783750 SNRNP200 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757784023 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS757784515 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS757785149 CFH Health Risk Pathogenic/Likely pathogenic Hemolytic uremic syndrome, atypical
RS757788141 ATR Health Risk Pathogenic —
RS757788424 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS757788894 CLCN7 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS757789191 TTN Health Risk Conflicting classifications of pathogenicity —
RS757789853 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS757789935 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS757791378 EIF2AK2 Health Risk Conflicting classifications of pathogenicity Dystonia 33, Dystonia 33
RS757791539 KMT2D Health Risk Conflicting classifications of pathogenicity KMT2D-related disorder, Kabuki syndrome
RS757791701 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS757791812 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS757792232 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Renal tubulopathies
RS757793421 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS757793925 PCNT Health Risk Pathogenic/Likely pathogenic PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
RS757794636 IRF6 Health Risk Likely pathogenic Van der Woude syndrome, Popliteal pterygium syndrome
RS757794637 IBA57 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 74, Multiple mitochondrial dysfunctions syndrome 3
RS757796081 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS757796329 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS757796926 GRHPR Health Risk Pathogenic/Likely pathogenic Nephrocalcinosis, Nephrolithiasis
RS757797985 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Susceptibility to mononeuropathy of the median nerve
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