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
RS34515088 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS34515208 ROBO1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental delay, ROBO1-related disorder
RS34515413 HBB Health Risk Pathogenic/Likely pathogenic HEMOGLOBIN MALMO, Erythrocytosis
RS34515646 MLKL Health Risk association Chronic multifocal osteomyelitis, Chronic multifocal osteomyelitis
RS34516117 KCNQ1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS34517004 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS34517175 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS34520362 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS34521483 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS34523608 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS34526199 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Hypercholesterolemia
RS34526305 UGT1A1 Health Risk Conflicting classifications of pathogenicity Hyperbilirubinemia, Lucey-Driscoll syndrome
RS34527846 HBB Health Risk Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS34530014 TCN1 Health Risk Conflicting classifications of pathogenicity Transcobalamin I deficiency, TCN1-related disorder
RS34530803 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS34532796 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS34533941 HBB Health Risk Likely pathogenic Beta zero thalassemia, Dominant beta-thalassemia
RS34542174 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS34542988 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS34547529 OTOG Health Risk Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 18B
RS34548294 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS34555120 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS34557412 TNFRSF13B Health Risk Conflicting classifications of pathogenicity; risk factor Immunoglobulin A deficiency 2, Immunodeficiency
RS34559250 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS34560788 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, WRN-related disorder
RS34563000 HBB Health Risk Pathogenic/Likely pathogenic Hemoglobinopathy, beta Thalassemia
RS34563188 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS34565987 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS34566895 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS34567401 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS34570933 BRCA1 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS34570972 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS34571629 PHYH Health Risk Conflicting classifications of pathogenicity Phytanic acid storage disease, PHYH-related disorder
RS34574788 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS34575057 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS34578730 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Dystonia 12
RS34580936 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS34583775 ATP8B1 Health Risk Conflicting classifications of pathogenicity ATP8B1-related disorder, ATP8B1-related disorder
RS34583846 RAD51B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS34586048 PDGFRB Health Risk Conflicting classifications of pathogenicity Infantile myofibromatosis, Basal ganglia calcification
RS34589386 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS34589476 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS34590975 LAMA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA3-related disorder
RS34591340 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS34593399 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS34596189 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome, Usher syndrome type 2A
RS34596532 LIPC Health Risk Conflicting classifications of pathogenicity Hyperlipidemia due to hepatic triglyceride lipase deficiency, Hyperlipidemia due to hepatic triglyceride lipase deficiency
RS34598192 MYH7 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS34598529 HBB Health Risk Pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS34599281 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
RS34602786 WDR11 Health Risk Conflicting classifications of pathogenicity —
RS34603892 COL4A2 Health Risk Pathogenic —
RS34604640 KCNE3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 6, Cardiovascular phenotype
RS34607888 ERCC4 Health Risk Pathogenic —
RS34612342 MUTYH Health Risk Pathogenic/Likely pathogenic Endometrial carcinoma, Familial adenomatous polyposis 2
RS34613633 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Colon adenocarcinoma
RS34614061 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS34615430 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Intellectual disability
RS34617074 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS34617196 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS34619378 RDH5 Health Risk Pathogenic —
RS34624018 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS34627040 RPE65 Health Risk Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS34629684 TNXB Health Risk Likely pathogenic TNXB-related disorder, TNXB-related disorder
RS34632959 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS34635052 ITPR1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Autosomal dominant cerebellar ataxia
RS34635364 HBA1 Health Risk Pathogenic; other Heinz body anemia, HEMOGLOBIN TOYAMA
RS34637584 LRRK2 Health Risk Pathogenic/Likely pathogenic; risk factor Autosomal dominant Parkinson disease 8, Inborn genetic diseases
RS34640941 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS34647222 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontoneocerebellar hypoplasia
RS34649270 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS34651888 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS34652786 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS34654141 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS34656239 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS34661166 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS34661294 WDR36 Health Risk Conflicting classifications of pathogenicity Primary open angle glaucoma, Primary open angle glaucoma
RS34663314 HBB Health Risk Conflicting classifications of pathogenicity —
RS34666647 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS34667348 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Gastric cancer
RS34673364 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS34675173 AFG2B Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive 119
RS34676630 EYS Health Risk Pathogenic Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 25
RS34677017 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS34677591 SDHD Health Risk Conflicting classifications of pathogenicity Cowden syndrome 3, Pheochromocytoma/paraganglioma syndrome 1
RS34677717 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, PINK1-related disorder
RS34678453 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS34678567 POC5 Health Risk Conflicting classifications of pathogenicity POC5-related disorder, Retinal dystrophy
RS34682185 RET Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Hirschsprung disease
RS34682727 SPATA7 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 3
RS34687433 ACTL9 Health Risk Pathogenic Spermatogenic failure 53, Spermatogenic failure 53
RS34690599 HBB Health Risk Pathogenic/Likely pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS34693334 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS34695403 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS34700927 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, BUB1B-related disorder
RS34702903 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS34704118 MPDZ Health Risk Conflicting classifications of pathogenicity MPDZ-related disorder, MPDZ-related disorder
RS34704828 HBB Health Risk Pathogenic beta Thalassemia, Hemoglobinopathy
RS34705415 PDZD7 Health Risk Pathogenic PDZD7-related disorder, PDZD7-related disorder
RS34706299 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
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