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
RS763352024 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Inborn genetic diseases
RS763352069 CEP83 Health Risk Likely pathogenic —
RS763352401 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, ACE-related disorder
RS763352655 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS763352763 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS763353615 HOXB13 Health Risk Conflicting classifications of pathogenicity Prostate cancer, hereditary
RS763353781 NALCN Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS763353895 KCNA2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 32
RS763353979 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS763353991 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS763354006 TRPV4 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS763354142 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS763357013 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 3
RS763357144 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS763358033 DOCK7 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 23
RS76335820 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia
RS763359208 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS763359860 IL2RG Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency, X-linked
RS763360042 MASP1 Health Risk Pathogenic 3MC syndrome 1, 3MC syndrome 1
RS763360043 KIF1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neuropathy
RS763360081 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS763360696 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS763361422 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS763361583 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome
RS763362184 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS763362512 IFT140 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Saldino-Mainzer syndrome
RS763363403 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS763363704 PCDH12 Health Risk Conflicting classifications of pathogenicity Marshall syndrome, Inborn genetic diseases
RS763364681 SUN1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS763364899 SP110 Health Risk Pathogenic/Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis
RS763364977 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS763365550 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS763365816 KCNQ5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763365852 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS763368889 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS763369093 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS763370550 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS763371769 PDE6B Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS763372245 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS763372742 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS763372824 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS763372958 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS763372977 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS763373602 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Breast and/or ovarian cancer
RS763374096 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS763374476 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1B, SKIN/HAIR/EYE PIGMENTATION 3
RS763374929 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Catecholaminergic polymorphic ventricular tachycardia 1
RS763375578 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS763376147 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS763377072 MSH3 Health Risk Likely pathogenic —
RS763378916 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS763378933 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS763380219 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS763380940 DYM Health Risk Pathogenic —
RS763381198 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Idiopathic Pulmonary Fibrosis
RS763383326 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS763384059 KIF11 Health Risk Pathogenic —
RS763385120 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS763385432 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Nanophthalmos 2
RS763385498 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS763386280 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS763386297 ASXL1 Health Risk Pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS763386320 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS763387034 SLC4A11 Health Risk Pathogenic —
RS763387041 RTN2 Health Risk Pathogenic Hereditary spastic paraplegia 12, Neuronopathy
RS763387095 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS763388598 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS763389035 SKIC3 Health Risk Conflicting classifications of pathogenicity —
RS763389778 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS763389877 USH2A Health Risk Pathogenic USH2A-related disorder, Usher syndrome
RS763389916 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia
RS763389929 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS763390117 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS763390172 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS763390377 NHS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS763390436 FH Health Risk Likely pathogenic Cutaneous leiomyoma, Cutaneous leiomyoma
RS763390467 COL2A1 Health Risk Likely pathogenic —
RS763392299 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS763392794 CNTN2 Health Risk Likely pathogenic Epilepsy, familial adult myoclonic
RS763393398 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS763393580 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS763395740 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS763395924 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS763396255 KIF12 Health Risk Pathogenic —
RS763396298 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS763398879 CYP17A1 Health Risk Pathogenic/Likely pathogenic Deficiency of steroid 17-alpha-monooxygenase, Deficiency of steroid 17-alpha-monooxygenase
RS763398880 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS763399136 TTC29 Health Risk Pathogenic Spermatogenic failure 42, Spermatogenic failure 42
RS763399137 PIGB Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 80
RS763399323 CDHR1 Health Risk Likely pathogenic —
RS763399938 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Sotos syndrome
RS763400390 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS763400879 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS763400883 STK36 Health Risk Pathogenic Ciliary dyskinesia, primary
RS763400903 MPV17 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS763401184 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 7 conditions
RS763401560 XRCC2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group U, Hereditary cancer-predisposing syndrome
RS763402272 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS763402728 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS763403354 GABRA1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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