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
RS770636513 MMAA Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblA type
RS770636895 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS770636921 USP9X Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS770636941 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS770637118 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS770637624 RAD51C Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS770637715 POLR1C Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS770639563 SLC45A2 Health Risk Conflicting classifications of pathogenicity —
RS770640457 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS770640829 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS770641163 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS770642379 KYNU Health Risk Pathogenic Congenital NAD deficiency disorder, Vertebral
RS770643416 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Hereditary spastic paraplegia 11
RS770644036 UPB1 Health Risk Likely pathogenic Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS770645288 SLC27A4 Health Risk Conflicting classifications of pathogenicity Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS770646738 ACADS Health Risk Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS770647680 NGF Health Risk Conflicting classifications of pathogenicity Congenital sensory neuropathy with selective loss of small myelinated fibers, Inborn genetic diseases
RS770648429 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS770648545 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS770648642 HRAS Health Risk Pathogenic —
RS770648856 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS770649540 DHTKD1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria
RS770649751 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS770649913 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS770652502 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS770653972 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS770654508 COQ7 Health Risk Conflicting classifications of pathogenicity Primary coenzyme Q10 deficiency 8, Neuronopathy
RS770654975 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS770655238 AP3D1 Health Risk Conflicting classifications of pathogenicity —
RS770655669 CFI Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with I factor anomaly, Complement-mediated glomerular disease
RS770656547 OFD1 Health Risk Likely pathogenic —
RS770657036 POU3F4 Health Risk Pathogenic —
RS770657475 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS770658506 USH2A Health Risk Pathogenic —
RS770658701 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease, axonal
RS770658726 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS770659035 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS770659908 RP1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS770660636 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS770660705 SLC6A5 Health Risk Pathogenic/Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS770661156 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS770662152 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, Atrioventricular septal defect 5
RS770663172 SLC26A5 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 61, Autosomal recessive nonsyndromic hearing loss 61
RS770663802 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS770663870 ACAD8 Health Risk Likely pathogenic Deficiency of isobutyryl-CoA dehydrogenase, Deficiency of isobutyryl-CoA dehydrogenase
RS770664202 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS770664957 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group D1
RS770665020 ETFB Health Risk Likely pathogenic —
RS770666285 KIF1A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS770666794 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS770666980 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Menke-Hennekam syndrome 1
RS770667051 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS770667157 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS770667248 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS770667302 CLRN1 Health Risk Conflicting classifications of pathogenicity —
RS770667508 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS770668926 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS770669224 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS770670664 FAM149B1 Health Risk Conflicting classifications of pathogenicity —
RS770670817 ZNF687 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 6, Paget disease of bone 6
RS770670938 HNRNPU Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS770671402 CBS Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS770671752 PIGC Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 16, Glycosylphosphatidylinositol biosynthesis defect 16
RS770671793 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS770671851 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770673079 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS770673858 ERCC6 Health Risk Likely pathogenic —
RS770674396 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS770674400 KAT6B Health Risk Pathogenic —
RS770674513 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS770674615 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS770675734 CHRNE Health Risk Likely pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS770676368 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS770677266 KCNB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 26
RS770677319 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS770678862 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS770678983 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS770679527 CACNA1A Health Risk Likely pathogenic Episodic ataxia type 2, Episodic ataxia type 2
RS770680174 SMARCA4 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 16
RS770680602 SPEN Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS770681199 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS770681790 TULP1 Health Risk Pathogenic —
RS770682604 PHYH Health Risk Likely pathogenic —
RS770683738 FAT4 Health Risk Conflicting classifications of pathogenicity Hennekam lymphangiectasia-lymphedema syndrome 2, Van Maldergem syndrome 2
RS770684431 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, 7 conditions
RS770684782 SETX Health Risk Pathogenic Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 4
RS770684838 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS770684884 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS770685785 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS770686014 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS770686560 KCNC3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 13, Spinocerebellar ataxia type 13
RS770687847 SLX4 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS770689762 ADA2 Health Risk Pathogenic/Likely pathogenic Sneddon syndrome, Deficiency of adenosine deaminase 2
RS770691402 FDXR Health Risk Conflicting classifications of pathogenicity Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome
RS770691974 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS770692313 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS770692765 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS770692923 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS770692989 PTPN23 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Brain atrophy
RS770693935 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
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