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
RS752721097 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS752722523 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752722792 COG4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752724850 POLE Health Risk Pathogenic —
RS752725349 NHERF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752726728 ACTN4 Health Risk Conflicting classifications of pathogenicity —
RS752726764 TSEN54 Health Risk Pathogenic —
RS752727398 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS752727641 PLD1 Health Risk Pathogenic —
RS752728262 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS752728469 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752728718 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS752728823 GPIHBP1 Health Risk Pathogenic/Likely pathogenic Hyperlipoproteinemia, type 1D
RS752728865 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS752729755 RECQL4 Health Risk Pathogenic/Likely pathogenic Rothmund-Thomson syndrome type 2, Baller-Gerold syndrome
RS752729907 PHEX Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS752729935 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 12
RS752730139 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS752730608 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS752731569 FKRP Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS752731697 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752733398 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS752734208 KLHL40 Health Risk Pathogenic Nemaline myopathy 8, Nemaline myopathy 8
RS752734259 PATL2 Health Risk Pathogenic Oocyte maturation defect 4, Oocyte maturation defect 4
RS752734772 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS752735168 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS752736343 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS752736478 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS752736741 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS752737484 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS752738056 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS752738546 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS752738977 DRP2 Health Risk Pathogenic —
RS752740048 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS752740718 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS752741173 TCF3 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 8, autosomal dominant
RS752741187 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS752741447 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS752744680 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS752744834 TMX2 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, cortical malformations
RS752745051 SEC61A1 Health Risk Pathogenic Hyperuricemic nephropathy, familial juvenile type 4
RS752745266 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS752745814 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS752745892 CYP11B2 Health Risk Pathogenic —
RS752746072 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS752746395 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS752746786 GNB1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, 13 conditions
RS752747097 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS752748927 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS752749747 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS752750067 CHD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752751096 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752751372 MED13L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dextro-looped transposition of the great arteries
RS752751787 GORAB Health Risk Pathogenic Inborn genetic diseases, Geroderma osteodysplastica
RS752752584 TGFBR2 Health Risk Uncertain risk allele Diabetic retinopathy, Diabetic retinopathy
RS752753204 CPLANE1 Health Risk Pathogenic —
RS752753379 PLPBP Health Risk Pathogenic Epilepsy, early-onset
RS752754320 C8B Health Risk Pathogenic —
RS752755275 SATB1 Health Risk Pathogenic Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
RS75275592 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS752756548 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS752757232 ERCC8 Health Risk Conflicting classifications of pathogenicity —
RS752757689 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 1
RS752758269 KPNA7 Health Risk Conflicting classifications of pathogenicity —
RS752758430 B3GALNT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS752758517 TTN Health Risk Conflicting classifications of pathogenicity —
RS752759296 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS752759589 PNPT1 Health Risk Conflicting classifications of pathogenicity —
RS752761437 PCCA Health Risk Pathogenic/Likely pathogenic Propionic acidemia, PCCA-related disorder
RS752762669 BBS12 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 12, Retinitis pigmentosa
RS752762799 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS752763391 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS752763816 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS752763979 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS752764341 DPY19L2 Health Risk Pathogenic Spermatogenic failure 9, Spermatogenic failure 9
RS752764598 HPDL Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Inborn genetic diseases
RS752764827 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS752765582 PTCH1 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Hereditary cancer-predisposing syndrome
RS752767269 CFI Health Risk Pathogenic/Likely pathogenic Factor I deficiency, CFI-related disorder
RS752768656 HSD17B4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bifunctional peroxisomal enzyme deficiency
RS752770000 SNIP1 Health Risk Conflicting classifications of pathogenicity —
RS752770883 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS752772040 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS752773452 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS752773885 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS752773977 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS752774091 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS752774864 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS752775102 MCPH1 Health Risk Likely pathogenic —
RS752775519 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS752775574 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 6A
RS752776605 TIMMDC1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 31
RS752777483 EMC1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, EMC1-related disorder
RS752777832 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS752779035 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS752780415 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS752780532 CIC Health Risk Likely pathogenic Intellectual disability, autosomal dominant 45
RS752780954 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS752781169 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS752781534 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Hereditary spastic paraplegia
« Prev 1 ... 3240 3241 3242 3243 3244 3245 3246 ... 4509 Next »

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

Get Started Free →