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
RS35821434 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2Q
RS35823417 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, IFT140-related disorder
RS35826988 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS35829419 NLRP3 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 1, Chronic infantile neurological
RS35831931 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS35837567 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS35840595 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS35843015 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS35846833 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS35849199 HBB Health Risk Pathogenic; other Heinz body anemia, HEMOGLOBIN INDIANAPOLIS
RS35849348 HBD Health Risk Pathogenic HEMOGLOBIN A(2) BABINGA, HEMOGLOBIN A(2) BABINGA
RS35852516 STAR Health Risk Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS35853292 KCNA5 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS35855065 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS35855196 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS35856689 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS35857380 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS35857705 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1O
RS35859650 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS35861510 HOXA13 Health Risk Pathogenic/Likely pathogenic Hand-foot-genital syndrome, Hand-foot-genital syndrome
RS35865357 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS35865691 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS35867418 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS35868965 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS35869497 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS35870237 LRRK2 Health Risk Pathogenic Autosomal dominant Parkinson disease 8, Autosomal dominant Parkinson disease 8
RS35870543 ZNF280B Health Risk Conflicting classifications of pathogenicity Exstrophy-epispadias complex, Exstrophy-epispadias complex
RS35873579 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS35874056 CACNA1D Health Risk Conflicting classifications of pathogenicity —
RS35878526 GNPTAB Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS35878954 SLC2A1 Health Risk Pathogenic —
RS35881692 DOCK6 Health Risk Conflicting classifications of pathogenicity DOCK6-related disorder, Inborn genetic diseases
RS35885472 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, ALDOB-related disorder
RS35887009 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS35887327 HSD3B2 Health Risk Conflicting classifications of pathogenicity 3 beta-Hydroxysteroid dehydrogenase deficiency, HSD3B2-related disorder
RS35887507 HBD Health Risk Pathogenic Delta-0-thalassemia, Delta-0-thalassemia
RS35887622 GJB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 1A, Nonsyndromic genetic hearing loss
RS35890959 HBB Health Risk Pathogenic/Likely pathogenic HEMOGLOBIN OLYMPIA, Erythrocytosis
RS35891605 PRKCD Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS35891845 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS35892240 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35894115 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS35896485 GFI1 Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS35897051 LPO;MPO Health Risk Conflicting classifications of pathogenicity Myeloperoxidase deficiency, MPO-related disorder
RS35898499 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 38
RS35900050 CYP19A1 Health Risk Conflicting classifications of pathogenicity Aromatase deficiency, Aromatase deficiency
RS35902379 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS35904234 TRIM32 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS35909818 HSPB8 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases
RS35915872 LTBP2 Health Risk Pathogenic —
RS35916840 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Gastric cancer
RS35918369 EGFR Health Risk Conflicting classifications of pathogenicity Hereditary cancer, EGFR-related lung cancer
RS35925274 ARHGEF10 Health Risk Conflicting classifications of pathogenicity Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS35925435 RIMS2 Health Risk Conflicting classifications of pathogenicity —
RS35926225 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS35932623 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS35939430 HBB Health Risk Conflicting classifications of pathogenicity HEMOGLOBIN CRETE, beta Thalassemia
RS35939489 HBB Health Risk Likely pathogenic HEMOGLOBIN CHICO, HEMOGLOBIN CHICO
RS35942383 RCN1 Health Risk Conflicting classifications of pathogenicity —
RS35942532 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS35946687 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS35946774 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS35947132 PRF1 Health Risk Conflicting classifications of pathogenicity; risk factor Hemophagocytic lymphohistiocytosis, familial
RS35949130 HBB Health Risk Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS35952153 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS35956074 LIG3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35957013 CFHR5 Health Risk Conflicting classifications of pathogenicity C3 glomerulonephritis, C3 glomerulonephritis
RS35957924 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS35959882 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS35960628 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS35960726 HAVCR2 Health Risk Conflicting classifications of pathogenicity Subcutaneous panniculitis-like T-cell lymphoma, Subcutaneous panniculitis-like T-cell lymphoma
RS35962982 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS35963362 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS35963548 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS35964044 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS35967690 CORO1A Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CORO1A deficiency, CORO1A-related disorder
RS35969033 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS35969994 GUCA1A;GUCA1ANB-GUCA1A Health Risk Conflicting classifications of pathogenicity Cone dystrophy 3, Cone dystrophy 3
RS35972733 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, SGCA-related disorder
RS35973133 BMPR1B Health Risk Conflicting classifications of pathogenicity Brachydactyly, Acromesomelic dysplasia 3
RS35976098 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome
RS35977354 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS35978122 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS35983258 HBG1 Health Risk Pathogenic Hereditary persistence of fetal hemoglobin, Hereditary persistence of fetal hemoglobin
RS35984312 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS35985869 SKIC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS35991093 TRIP11 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IA
RS35993655 HBA1 Health Risk Likely pathogenic HEMOGLOBIN TUNIS-BIZERTE, alpha Thalassemia
RS35993949 CPA6 Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 5, Global developmental delay
RS35993958 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS35996658 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrin deficiency, Citrullinemia type II
RS35997415 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Transcobalamin II deficiency
RS35999761 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS36001797 RAG2 Health Risk Likely pathogenic Histiocytic medullary reticulosis, Severe combined immunodeficiency
RS36002764 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS36007394 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS36008922 HBB Health Risk Pathogenic HEMOGLOBIN BRISTOL, HEMOGLOBIN ALESHA
RS36011345 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS36015961 HBB Health Risk Pathogenic/Likely pathogenic Beta thalassemia intermedia, HEMOGLOBIN DURHAM-N.C.
RS36020563 HBB Health Risk Pathogenic Erythrocytosis, familial
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