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
RS1047201601 RARS2 Health Risk Pathogenic —
RS1047229701 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1047233939 HUWE1 Health Risk Conflicting classifications of pathogenicity HUWE1-related disorder, Inborn genetic diseases
RS1047322213 PQBP1 Health Risk Conflicting classifications of pathogenicity Renpenning syndrome, PQBP1-related disorder
RS1047332996 NBAS Health Risk Pathogenic —
RS1047334468 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1047344623 SLC24A5 Health Risk Pathogenic —
RS1047347414 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1047348249 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1047376 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1047396806 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1047420796 TRIT1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 35, Inborn genetic diseases
RS1047426224 ETFA Health Risk Pathogenic Multiple acyl-CoA dehydrogenase deficiency, Glutaric acidemia type 2A
RS1047485135 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1047486988 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1047501521 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1047509819 DYNC1H1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 13
RS1047531932 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1047569721 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS1047596402 MYO18B Health Risk Pathogenic —
RS1047608955 RNF168 Health Risk Likely pathogenic RIDDLE syndrome, RIDDLE syndrome
RS1047644991 F8 Health Risk Pathogenic/Likely pathogenic Abnormality of coagulation, Hereditary factor VIII deficiency disease
RS1047677628 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS1047677696 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1047718058 DUOX2 Health Risk Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1047747 ALG1 Health Risk Likely pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS1047795344 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1047808762 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1047810495 SLC22A5 Health Risk Pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS1047838051 NSD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1047872625 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS1047910260 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1047937861 MYLK Health Risk Pathogenic Aortic aneurysm, familial thoracic 7
RS1047955739 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1047976958 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, SLC22A12-related disorder
RS1048000119 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1048018914 PUS1 Health Risk Pathogenic Myopathy, lactic acidosis
RS1048022444 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1048025807 PCDH12 Health Risk Pathogenic Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
RS1048032321 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1048042 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS1048086299 LMNA Health Risk Conflicting classifications of pathogenicity —
RS1048095 ABCC8 Health Risk Pathogenic/Likely pathogenic Permanent neonatal diabetes mellitus, Neonatal diabetes mellitus
RS1048095040 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS1048096626 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1048099 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS1048122979 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1048183757 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1048199759 HNRNPK Health Risk Conflicting classifications of pathogenicity Au-Kline syndrome, Au-Kline syndrome
RS1048233904 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Inborn genetic diseases
RS1048241141 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cerebral palsy
RS1048273373 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1048322333 HINT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive axonal neuropathy with neuromyotonia, Inborn genetic diseases
RS1048376563 OPA1 Health Risk Pathogenic/Likely pathogenic —
RS1048427417 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Coffin-Siris syndrome 1
RS1048433974 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1048444597 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS1048452849 IFNAR1 Health Risk Likely pathogenic —
RS1048457038 CRPPA Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1048485136 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1048529437 PADI6 Health Risk Likely pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS1048545964 NDP Health Risk Likely pathogenic —
RS10485741 JAG1 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, Cardiovascular phenotype
RS1048593315 ARX Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked
RS1048609704 ATP2C1 Health Risk Likely pathogenic —
RS1048661 LOXL1 Health Risk risk factor Exfoliation syndrome, susceptibility to
RS1048666076 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS1048708341 LOXHD1 Health Risk Pathogenic —
RS1048716809 MEFV Health Risk Likely pathogenic Familial Mediterranean fever, Familial Mediterranean fever
RS1048754592 RDH12 Health Risk Pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS1048764460 COG4 Health Risk Pathogenic Delayed gross motor development, Microcephalic osteodysplastic dysplasia
RS1048819854 FSCN2 Health Risk Conflicting classifications of pathogenicity FSCN2-related disorder, FSCN2-related disorder
RS1048845848 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS104886033 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS104886035 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS104886039 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS104886040 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS104886041 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS104886043 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886047 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886050 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886054 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886056 COL4A5 Health Risk Pathogenic —
RS104886059 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS104886060 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886061 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886062 COL4A5 Health Risk Pathogenic —
RS104886063 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886065 COL4A5 Health Risk Pathogenic —
RS104886066 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886067 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS104886068 COL4A5 Health Risk Likely pathogenic —
RS104886071 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, Alport syndrome
RS104886073 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886074 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886076 COL4A5 Health Risk Pathogenic —
RS104886078 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886079 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, Alport syndrome
RS104886080 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS104886081 COL4A5 Health Risk Pathogenic —
« Prev 1 ... 20 21 22 23 24 25 26 ... 4509 Next »

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

Get Started Free →