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
RS139287714 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Inborn genetic diseases
RS139287784 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS139289675 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS139289704 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS139290300 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS139290621 NPHS2 Health Risk Conflicting classifications of pathogenicity Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis
RS1392909108 BUB1B Health Risk Pathogenic Premature chromatid separation trait, Mosaic variegated aneuploidy syndrome 1
RS1392915838 LAMC3 Health Risk Pathogenic —
RS139291592 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1392921552 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1392934477 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS139293773 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS139293796 PKD1L1 Health Risk Conflicting classifications of pathogenicity —
RS139293893 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1392939514 ITGB4 Health Risk Pathogenic ITGB4-related disorder, ITGB4-related disorder
RS139293982 IFNAR1 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS1392940377 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS139294220 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, RP1-related disorder
RS1392946940 ADNP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139295083 EOGT Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 4, Inborn genetic diseases
RS139295139 SEMA3A Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 16 with or without anosmia, Amenorrhea
RS1392954149 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS139295564 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS139295905 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1392959973 GRIA3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139297205 DLL3 Health Risk Conflicting classifications of pathogenicity Syndactyly, Spondylocostal dysostosis 1
RS139297216 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS139297339 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy
RS139297616 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS1392981001 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1392985639 TMEM67 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS139299149 IQCB1 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 5, Nephronophthisis
RS139299227 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Mevalonic aciduria
RS1392992564 RBP3 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS139299777 NDUFV1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1392999374 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS139300551 GLDC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glycine encephalopathy
RS139300604 CERKL Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 26
RS139300715 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, SCN1A-related disorder
RS139300843 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS139301835 SERAC1 Health Risk Likely pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS139302211 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1393024469 EXT2 Health Risk Pathogenic Exostoses, multiple
RS139302633 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS139302890 CNOT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139302994 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS139303296 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS1393039920 LIPA Health Risk Likely pathogenic Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS139304412 CLCNKB Health Risk Conflicting classifications of pathogenicity Bartter disease type 3, Bartter disease type 4B
RS1393048121 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, 6 conditions
RS139304906 CFTR Health Risk Pathogenic Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS1393051955 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS139305531 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS139306043 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, ETFDH-related disorder
RS1393064503 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS1393065957 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS139306706 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS139306713 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS1393076582 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1393079124 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS139308059 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139308429 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS139308660 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hereditary spherocytosis type 4
RS139309224 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS1393095176 GCH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139309795 AGMO Health Risk Conflicting classifications of pathogenicity —
RS1393100780 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS1393101824 HSPG2 Health Risk Pathogenic/Likely pathogenic —
RS139310305 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS139310448 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Pseudohypoaldosteronism
RS139310513 PTCHD1 Health Risk Conflicting classifications of pathogenicity —
RS139310551 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS1393117824 PALB2 Health Risk Conflicting classifications of pathogenicity Breast carcinoma, Familial cancer of breast
RS139311927 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS139312280 POU4F3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139312819 DNAJC5 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS139313647 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS139313781 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS139314192 XPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139314808 TJP2 Health Risk Pathogenic/Likely pathogenic Cholestasis, progressive familial intrahepatic
RS139315125 PER3 Health Risk Conflicting classifications of pathogenicity Advanced sleep phase syndrome 3, Advanced sleep phase syndrome 3
RS1393160852 NRAS Health Risk Conflicting classifications of pathogenicity Focal-onset seizure, Focal-onset seizure
RS1393162163 DPAGT1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
RS1393167436 TOE1 Health Risk Pathogenic —
RS1393167652 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS139317626 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS139317695 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS139317756 DNAJB13 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 34, DNAJB13-related disorder
RS139317762 EDNRB Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS139318016 KCNH1 Health Risk Conflicting classifications of pathogenicity —
RS1393181351 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS139318203 RPL23 Health Risk Conflicting classifications of pathogenicity —
RS1393186135 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS139318648 DUSP6 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 19 with or without anosmia, Hypogonadotropic hypogonadism 19 with or without anosmia
RS139318843 COL7A1 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa dystrophica, Transient bullous dermolysis of the newborn
RS139318945 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS139319094 SLC1A4 Health Risk Conflicting classifications of pathogenicity —
RS139319145 KCTD1 Health Risk Conflicting classifications of pathogenicity —
RS1393191930 OTOG Health Risk Pathogenic/Likely pathogenic —
RS1393195833 PCDH15 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
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