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
RS778813372 PIEZO1 Health Risk Conflicting classifications of pathogenicity Lymphatic malformation 6, Inborn genetic diseases
RS778813513 AMER1 Health Risk Conflicting classifications of pathogenicity —
RS778813551 ATR Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Seckel syndrome 1
RS778814831 CETP Health Risk Conflicting classifications of pathogenicity Hyperalphalipoproteinemia 1, CETP-related disorder
RS778815348 OSTM1 Health Risk Pathogenic —
RS77881630 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS778816786 SLC19A3 Health Risk Pathogenic/Likely pathogenic Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS778816851 PPP1R21 Health Risk Pathogenic —
RS778817718 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS778818485 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS778818507 SETBP1 Health Risk Conflicting classifications of pathogenicity Schinzel-Giedion syndrome, Inborn genetic diseases
RS778818824 COL5A2 Health Risk Conflicting classifications of pathogenicity —
RS778819060 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS778819609 C1GALT1C1 Health Risk Pathogenic Polyagglutinable erythrocyte syndrome, Polyagglutinable erythrocyte syndrome
RS778819756 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS778820230 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778820577 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS778820674 IKZF1 Health Risk Conflicting classifications of pathogenicity Pancytopenia due to IKZF1 mutations, Pancytopenia due to IKZF1 mutations
RS778820710 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS778821180 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Cardiovascular phenotype
RS778821191 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Inborn genetic diseases
RS778822407 CDAN1 Health Risk Pathogenic Anemia, congenital dyserythropoietic
RS778822926 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS778823613 ACAD8 Health Risk Pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS778823927 TMEM237 Health Risk Likely pathogenic Joubert syndrome 14, TMEM237-related disorder
RS778824093 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS778824203 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy, Nemaline myopathy
RS778824382 NAXD Health Risk Pathogenic NAD(P)HX dehydratase deficiency, NAD(P)HX dehydratase deficiency
RS778824655 LMOD3 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 10, Nemaline myopathy 10
RS778825095 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS778829355 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS778830625 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS778830884 CTC1 Health Risk Conflicting classifications of pathogenicity Cerebroretinal microangiopathy with calcifications and cysts 1, Dyskeratosis congenita
RS778831047 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS778831368 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS778832119 ADGRG1 Health Risk Likely pathogenic —
RS778832152 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Hematuria
RS778832785 BICC1 Health Risk Likely pathogenic Renal agenesis, Renal agenesis
RS778834041 CC2D1A Health Risk Likely pathogenic —
RS778834209 GDF5 Health Risk Pathogenic GDF5-related disorder, GDF5-related disorder
RS778834792 TRRAP Health Risk Conflicting classifications of pathogenicity Developmental delay with or without dysmorphic facies and autism, Developmental delay with or without dysmorphic facies and autism
RS778835151 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS778837182 CHAT Health Risk Pathogenic/Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS778838205 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778838312 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS778838598 TGFBR2 Health Risk Uncertain risk allele Diabetic retinopathy, Diabetic retinopathy
RS778839142 PC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pyruvate carboxylase deficiency
RS778840325 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS778840560 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS778840671 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778842299 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS778842491 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, Inborn genetic diseases
RS778842661 RNASEH2A Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 4, Inborn genetic diseases
RS778843215 SRCAP Health Risk Conflicting classifications of pathogenicity SRCAP-related disorder, Floating-Harbor syndrome
RS778843530 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS778845512 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS778846494 ACBD5 Health Risk Pathogenic —
RS778847250 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella-like renal disease
RS778849288 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS778849441 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS778849740 TG Health Risk Pathogenic Iodotyrosyl coupling defect, TG-related disorder
RS778850138 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS778850233 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS778850368 CEP104 Health Risk Pathogenic/Likely pathogenic CEP104-related disorder, Intellectual developmental disorder
RS778850530 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS778851652 TCAP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G, Hypertrophic cardiomyopathy 25
RS778851716 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS778852699 ERLIN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS778853521 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS778853572 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS778854412 PLEKHG5 Health Risk Pathogenic Inborn genetic diseases, Neuronopathy
RS778855350 DLG3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS778855567 MTOR Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Papillary renal cell carcinoma type 1
RS778856227 COQ6 Health Risk Conflicting classifications of pathogenicity Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS778856307 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS778856526 DSP Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS778857180 A2ML1 Health Risk Conflicting classifications of pathogenicity A2ML1-related disorder, A2ML1-related disorder
RS778857216 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS778858648 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel-Gruber syndrome
RS778859631 ASPM Health Risk Pathogenic —
RS778861276 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS778862698 PEX7 Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS778863371 TJP2 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS778865255 ERCC3 Health Risk Pathogenic/Likely pathogenic Trichothiodystrophy 2, photosensitive
RS778866803 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS778867001 KRT14 Health Risk Pathogenic/Likely pathogenic —
RS778867355 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS778867622 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS778868018 MYO1E Health Risk Pathogenic Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS778868348 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS778868393 VARS2 Health Risk Conflicting classifications of pathogenicity VARS2-related disorder, VARS2-related disorder
RS778868539 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS778868742 HMGCL Health Risk Conflicting classifications of pathogenicity Deficiency of hydroxymethylglutaryl-CoA lyase, Deficiency of hydroxymethylglutaryl-CoA lyase
RS778868969 FMO3 Health Risk Likely pathogenic —
RS778869762 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS778870383 MPDZ Health Risk Pathogenic —
RS778871891 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS778871894 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder due to PEX1 defect, Zellweger spectrum disorders
RS778871932 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS778871974 CFI Health Risk Conflicting classifications of pathogenicity CFI-related disorder, CFI-related disorder
« Prev 1 ... 3661 3662 3663 3664 3665 3666 3667 ... 4509 Next »

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

Get Started Free →