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
RS3733808 SLC45A2 Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 4, SKIN/HAIR/EYE PIGMENTATION 5
RS373380960 ALPK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ALPK1-related disorder
RS373381680 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS373381746 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS373382239 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373382907 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS373382967 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS373383463 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS373383488 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373383785 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS373383800 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS373384181 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, ABCC2-related disorder
RS373384951 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS373386030 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS3733875 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS373387599 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS373388052 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Myopathy
RS373389031 ANKZF1 Health Risk Conflicting classifications of pathogenicity —
RS373389672 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS373390083 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS373390136 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS373390402 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS373390654 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS373391017 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS373391623 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373392142 ATCAY Health Risk Conflicting classifications of pathogenicity Cayman type cerebellar ataxia, Cayman type cerebellar ataxia
RS373392391 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS373392964 C3 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with C3 anomaly, Age related macular degeneration 9
RS373393333 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Van Maldergem syndrome 2
RS373393647 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373393733 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS373393953 PIGK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373393954 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS373394254 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS373396081 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS373396567 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS373397279 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS373399921 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS373400041 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast neoplasm
RS373400491 FYCO1 Health Risk Conflicting classifications of pathogenicity Cataract 18, Cataract 18
RS373400596 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS373403222 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS373404056 SLC29A3 Health Risk Conflicting classifications of pathogenicity H syndrome, SLC29A3-related disorder
RS373404630 FKBP10 Health Risk Likely pathogenic —
RS373405022 RERE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373406041 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS373406834 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Hereditary cancer-predisposing syndrome
RS373407146 SPTA1 Health Risk Likely pathogenic —
RS373407950 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS373408411 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Fanconi anemia complementation group Q
RS373408498 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS373409786 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS373410298 GCK Health Risk Conflicting classifications of pathogenicity —
RS373411028 FANCG Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group G
RS373411041 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sick sinus syndrome 2
RS373412516 CDHR1 Health Risk Pathogenic Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS373412959 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS373413237 SEMA6B Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS373414851 GATA1 Health Risk Likely pathogenic —
RS373416476 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS373416744 PRKCSH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hepatocellular carcinoma
RS373417110 PMP22 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS373417235 RBP3 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS373417416 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related Carpenter syndrome, MEGF8-related Carpenter syndrome
RS373417440 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS373418195 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS373418380 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373418713 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS373419443 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373419559 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS373420308 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Inborn genetic diseases
RS373421312 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, HPS4-related disorder
RS373421449 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373421558 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS373421716 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373422045 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS373422284 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS373422750 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS373422860 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, Frank-Ter Haar syndrome
RS373423993 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373424543 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS373427330 OBSL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS373427509 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis
RS373427673 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 14
RS373427674 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS373427903 FOXH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Holoprosencephaly sequence
RS373428259 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS373428721 TNC Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 56, Autosomal dominant nonsyndromic hearing loss 56
RS373428732 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS373428751 CARD14 Health Risk Conflicting classifications of pathogenicity Psoriasis 2, Pityriasis rubra pilaris
RS373428804 XKRX Health Risk Conflicting classifications of pathogenicity —
RS373428963 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS373429181 LMX1B Health Risk Conflicting classifications of pathogenicity LMX1B-related disorder, LMX1B-related disorder
RS373429610 KMT2D Health Risk Conflicting classifications of pathogenicity Intellectual disability, Kabuki syndrome
RS373429794 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS373429851 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS373430058 ATM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS373430198 FANCM Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS373433199 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SZT2-related disorder
RS373433625 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
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