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
RS1171657935 SNX14 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 20, SNX14-related disorder
RS1171658384 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1171661721 KLK11 Health Risk Pathogenic Ichthyosis with erythrokeratoderma, Ichthyosis with erythrokeratoderma
RS1171672823 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS117168441 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS1171694504 LRBA Health Risk Likely pathogenic Inherited Immunodeficiency Diseases, Inherited Immunodeficiency Diseases
RS1171704794 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS1171709721 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1171714073 FGFR1 Health Risk Conflicting classifications of pathogenicity 7 conditions, Pfeiffer syndrome
RS1171740250 GCK Health Risk Likely pathogenic GCK-related disorder, GCK-related disorder
RS117175017 DPM1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS1171762321 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1171778175 COL7A1 Health Risk Conflicting classifications of pathogenicity 7 conditions, 7 conditions
RS117178114 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1171781332 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy
RS117178504 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1171795845 ADAMTS2 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS117180147 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 2
RS1171802070 TRAPPC6B Health Risk Pathogenic/Likely pathogenic TRAPPC6B-related neurodevelopmental disorder, Neurodevelopmental disorder with microcephaly
RS1171803835 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1171816793 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS117182113 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28, Spastic ataxia 5
RS117184692 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1171852730 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1171861442 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1
RS117187202 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1171878347 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1171884826 SLC35D1 Health Risk Likely pathogenic SLC35D1-related disorder, SLC35D1-related disorder
RS117188693 KARS1 Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS1171897657 TRAPPC11 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1171943827 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 3
RS1171944003 BMP1 Health Risk Pathogenic —
RS1171946884 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P
RS1171957663 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS1171965250 AMT Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1171968124 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1171976101 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS1171977270 SLC25A46 Health Risk Likely pathogenic Neuropathy, hereditary motor and sensory
RS1171981319 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS1171989505 CTSC Health Risk Pathogenic Periodontitis, aggressive 1
RS1171990069 ANO6 Health Risk Pathogenic —
RS1171996547 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1172004393 PET100 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 12
RS1172015222 PREPL Health Risk Pathogenic/Likely pathogenic Myasthenic syndrome, congenital
RS1172025068 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS117204561 CLIC5 Health Risk Conflicting classifications of pathogenicity CLIC5-related disorder, CLIC5-related disorder
RS1172061571 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1172074861 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS117208167 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1-related disorder
RS1172083752 TYRP1 Health Risk Conflicting classifications of pathogenicity —
RS1172088152 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1172098673 CD3D Health Risk Pathogenic Immunodeficiency 19, Immunodeficiency 19
RS117213221 A2ML1 Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to
RS1172138387 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS1172142052 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1172143599 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS117215714 AKR1D1 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS1172161975 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
RS1172169587 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS117217073 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS117218785 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, PHKB-related disorder
RS117221284 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, ABCG8-related disorder
RS1172213655 SLC10A2 Health Risk Conflicting classifications of pathogenicity —
RS117221419 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1172216017 AP2S1 Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia 3, Familial hypocalciuric hypercalcemia 3
RS1172224921 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1172241523 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS117225135 DHTKD1 Health Risk Conflicting classifications of pathogenicity 2-aminoadipic 2-oxoadipic aciduria, Inborn genetic diseases
RS1172253757 XDH Health Risk Pathogenic Hereditary xanthinuria type 1, Hereditary xanthinuria type 1
RS1172262659 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS1172268284 FBLN5 Health Risk Pathogenic Charcot-Marie-Tooth disease, demyelinating
RS1172297627 PTH1R Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Jansen type
RS1172303286 EBF3 Health Risk Likely pathogenic —
RS117231596 PITX2 Health Risk Conflicting classifications of pathogenicity PITX2-Related Eye Abnormalities, Hypoplasia of the iris
RS1172315984 ZNF469 Health Risk Pathogenic/Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1172318248 LIPA Health Risk Pathogenic/Likely pathogenic Lysosomal acid lipase deficiency, Cholesteryl ester storage disease
RS1172328722 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Monogenic diabetes
RS1172330590 COL11A2 Health Risk Pathogenic —
RS1172357346 TMC1 Health Risk Pathogenic/Likely pathogenic —
RS1172381352 ALPL Health Risk Pathogenic Hypophosphatasia, Hypophosphatasia
RS1172384674 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1172386145 CCDC88A Health Risk Pathogenic —
RS1172393548 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1172409117 COLQ Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS117242563 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS1172428337 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1172435886 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS117243697 MYO18B Health Risk Conflicting classifications of pathogenicity Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS1172442364 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1172442868 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1172448451 HPS3 Health Risk Pathogenic —
RS117247312 PEX3 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS1172481159 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS1172486173 QARS1 Health Risk Conflicting classifications of pathogenicity Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
RS1172497555 VRK1 Health Risk Conflicting classifications of pathogenicity Distal hereditary motor neuropathy associated with upper motor neuron signs, Distal spinal muscular atrophy
RS117250170 NTRK2 Health Risk Conflicting classifications of pathogenicity —
RS1172505050 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1172508646 UFM1 Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1172521297 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS117255299 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
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