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
RS747379649 SIX1 Health Risk Conflicting classifications of pathogenicity Branchiootic syndrome 3, Autosomal dominant nonsyndromic hearing loss 23
RS747379918 MAT2A Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS747380313 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS747380397 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS747381671 FKBP14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type
RS747382969 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS747383685 PDCD10 Health Risk Pathogenic Cerebral cavernous malformation 3, Cerebral cavernous malformation 3
RS747383768 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS747384273 CBS Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, HYPERHOMOCYSTEINEMIA
RS747385238 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747385350 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS747386514 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS747386965 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Arterial calcification
RS747387614 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS747387987 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS747388658 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS747388850 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS747389157 KAT6A Health Risk Conflicting classifications of pathogenicity KAT6A-related disorder, Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
RS747389406 NNT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747390615 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS747390978 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS747391373 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS747391554 PI4KA Health Risk Pathogenic Polymicrogyria, perisylvian
RS747392139 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS747393487 RPE65 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS747395624 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS747396791 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Lowe syndrome
RS747399274 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS747400412 LRPPRC Health Risk Conflicting classifications of pathogenicity —
RS747400815 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS747401094 CIT Health Risk Conflicting classifications of pathogenicity Microcephaly 17, primary
RS747402972 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Transitory neonatal diabetes mellitus
RS747402973 RFXANK Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency 2
RS74740314 CHD6 Health Risk Conflicting classifications of pathogenicity —
RS747403932 NDUFB3 Health Risk Likely pathogenic —
RS747405574 UMPS Health Risk Conflicting classifications of pathogenicity Hereditary orotic aciduria, Hereditary orotic aciduria
RS747406535 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS747406932 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS747407654 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS747407725 NDUFV1 Health Risk Conflicting classifications of pathogenicity —
RS747408689 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS747409134 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS747409403 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Tibial muscular dystrophy
RS747409509 LAMB1 Health Risk Conflicting classifications of pathogenicity Cobblestone lissencephaly without muscular or ocular involvement, Cobblestone lissencephaly without muscular or ocular involvement
RS747409654 RYR1 Health Risk Likely pathogenic —
RS747409671 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS747410628 SLC2A9 Health Risk Conflicting classifications of pathogenicity Hypouricemia, renal
RS747410893 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS747412555 LINS1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 27
RS747413278 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS747417254 TAPBP Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, MHC class I deficiency
RS747417629 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS747418024 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS747418061 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS747418290 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS747418653 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS747419192 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS747419302 RSPH4A Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS747419767 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS747419878 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS747420910 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS747423090 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747423578 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS747424133 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS747424547 KIF1C Health Risk Conflicting classifications of pathogenicity Spastic ataxia 2, Inborn genetic diseases
RS747425038 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS747425652 CDHR1 Health Risk Pathogenic Retinitis pigmentosa 65, Retinal dystrophy
RS747426357 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS747426363 DNAH3 Health Risk Likely pathogenic Spermatogenic failure 18, Spermatogenic failure 18
RS747427445 BMP6 Health Risk Likely pathogenic Premature ovarian failure, Premature ovarian failure
RS7474275 BTK Health Risk Likely pathogenic —
RS747427602 PRKN Health Risk Pathogenic/Likely pathogenic Autosomal recessive juvenile Parkinson disease 2, Ovarian cancer
RS747428323 UNC13D Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3
RS747429748 ATP8B1 Health Risk Conflicting classifications of pathogenicity —
RS747430075 LZTR1 Health Risk Pathogenic LZTR1-related schwannomatosis, Noonan syndrome 10
RS747430905 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Dilated cardiomyopathy 1G
RS747431164 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS747431211 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS747431847 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS747433688 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS747434152 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS747434741 AARS1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS747435524 BRF1 Health Risk Pathogenic See cases, See cases
RS747437028 GFM1 Health Risk Likely pathogenic Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
RS747437062 ANKRD11 Health Risk Pathogenic —
RS747437391 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS747437399 CSF3R Health Risk Pathogenic Autosomal recessive severe congenital neutropenia due to CSF3R deficiency, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
RS747437716 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS747438350 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Spongy degeneration of central nervous system
RS747438636 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ARID1B-related disorder
RS747441460 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS747442701 NDUFS6 Health Risk Conflicting classifications of pathogenicity —
RS747442861 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS747444881 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747445236 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS747445357 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS747445534 NBEA Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS747446711 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS747446924 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS747447519 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, CNGA3-related disorder
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