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
RS750888081 SEC23B Health Risk Pathogenic/Likely pathogenic Congenital dyserythropoietic anemia, type II
RS750889657 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS750889767 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS750889782 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis
RS750890263 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS750890699 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS750891085 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS750894109 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS750894392 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS750894632 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS750895925 CDHR1 Health Risk Pathogenic/Likely pathogenic CDHR1-related disorder, CDHR1-related disorder
RS750896617 MOCOS Health Risk Pathogenic/Likely pathogenic Xanthinuria type II, Autism spectrum disorder
RS750896639 PDGFRB Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
RS750897443 TMEM231 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 11
RS750897569 PIGB Health Risk Pathogenic —
RS750898335 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Junctional epidermolysis bullosa with pyloric atresia
RS750898743 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750899715 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS750899949 EFHC1 Health Risk Conflicting classifications of pathogenicity —
RS750900506 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS750900568 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS750900690 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS750901301 SCN1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Severe myoclonic epilepsy in infancy
RS750901478 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Renal tubulopathies
RS750902549 ACBD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750902578 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS750903219 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS750903875 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS750904267 EYS Health Risk Conflicting classifications of pathogenicity Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 25
RS750904332 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS750904635 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS750905566 MYO7A Health Risk Pathogenic —
RS750905761 THRB Health Risk Conflicting classifications of pathogenicity Thyroid hormone resistance, generalized
RS750906253 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 7, Nephronophthisis
RS750906488 BEST1;FTH1 Health Risk Likely pathogenic Autosomal recessive bestrophinopathy, Autosomal recessive bestrophinopathy
RS750907088 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS750907780 CBL Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS750908017 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS750908377 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS750908839 LETM1 Health Risk Conflicting classifications of pathogenicity —
RS750909242 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS750911197 VAMP1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Myasthenic syndrome
RS750911335 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS750911924 RAI1 Health Risk Conflicting classifications of pathogenicity Smith-Magenis syndrome, RAI1-related disorder
RS750912244 KIF11 Health Risk Conflicting classifications of pathogenicity —
RS750912363 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS750913623 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS750915834 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS750915959 EXO1 Health Risk Likely pathogenic —
RS750916198 MCM3AP Health Risk Pathogenic —
RS750916721 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS750917538 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome 7, Joubert syndrome
RS750917672 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS750920467 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS750921440 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS750922282 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS750924240 WDPCP Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome
RS75092434 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS750926172 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS750927507 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS750928198 CTSA Health Risk Pathogenic Combined deficiency of sialidase AND beta galactosidase, Combined deficiency of sialidase AND beta galactosidase
RS750930283 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS750930293 SLC4A1 Health Risk Pathogenic/Likely pathogenic 11 conditions, 11 conditions
RS750930363 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS75093097 CENPF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS750931603 NR2E3 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS750931702 PROC Health Risk Likely pathogenic —
RS750932643 KRT6B Health Risk Conflicting classifications of pathogenicity Pachyonychia congenita 4, Pachyonychia congenita 4
RS750932668 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS750934083 MAP2K1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS750935331 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS750935580 FBXO38 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy type 2, Distal hereditary motor neuropathy type 2
RS750936389 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS750936617 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS750937093 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS750937323 CLN6 Health Risk Conflicting classifications of pathogenicity Ceroid lipofuscinosis, neuronal
RS750937792 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS750937838 MCPH1 Health Risk Pathogenic —
RS750937874 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases
RS750938556 AIP Health Risk Pathogenic —
RS750938678 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS750939022 EIF2AK3 Health Risk Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS750939090 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14
RS750939401 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS750939831 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS750940208 FGD1 Health Risk Conflicting classifications of pathogenicity Aarskog syndrome, Aarskog syndrome
RS750941135 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS750941179 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, COL4A5-related disorder
RS750941501 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS750942168 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS750943685 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS750943723 LAMTOR2 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency syndrome due to p14 deficiency, Primary immunodeficiency syndrome due to p14 deficiency
RS750944055 ABCB11 Health Risk Conflicting classifications of pathogenicity ABCB11-related disorder, ABCB11-related disorder
RS750944174 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS750944944 MYH9 Health Risk Conflicting classifications of pathogenicity Cataract 35, Cataract 35
RS750945230 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS750946437 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS750946801 LARP7 Health Risk Pathogenic/Likely pathogenic Microcephalic primordial dwarfism, Alazami type
RS750947314 PABPC1L Health Risk Pathogenic Female infertility due to zona pellucida defect, Female infertility due to zona pellucida defect
RS750947605 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
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