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
RS201967266 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS201967384 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Inborn genetic diseases
RS201967733 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201967801 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS201968272 DDX11 Health Risk Pathogenic/Likely pathogenic Warsaw breakage syndrome, Sarcoma
RS201968725 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS201968775 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS201968826 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
RS2019693030 NACC1 Health Risk Likely pathogenic —
RS201970174 MATR3 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 21, MATR3-related disorder
RS201970407 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS201970483 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS201970522 JAK3 Health Risk Conflicting classifications of pathogenicity T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS201970559 NRL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS2019706242 NACC1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with epilepsy, cataracts
RS201970806 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201970872 ARHGAP31 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201970876 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Inborn genetic diseases
RS201971047 OAS1 Health Risk Conflicting classifications of pathogenicity —
RS201971084 USP48 Health Risk Pathogenic Hearing loss, autosomal dominant 85
RS201971114 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS201971363 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Malignant hyperthermia
RS201971682 MYOZ2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 16, Cardiovascular phenotype
RS201971718 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS201971987 TXNRD2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Primary dilated cardiomyopathy
RS201972673 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS201972783 MAN1B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rafiq syndrome
RS201972896 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Charcot-Marie-Tooth disease dominant intermediate B
RS201973611 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Cohen syndrome
RS2019737049 NACC1 Health Risk Conflicting classifications of pathogenicity —
RS201973949 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS201974522 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS201974671 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201975029 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-related disorder
RS201975081 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, MYPN-related myopathy
RS201975130 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS201975160 KCNV2 Health Risk Conflicting classifications of pathogenicity —
RS201975537 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS201975697 OSMR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201975812 DNASE1 Health Risk Conflicting classifications of pathogenicity DNASE1-related disorder, DNASE1-related disorder
RS201976061 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 45
RS201976136 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS201976154 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS201976178 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Autoinflammatory syndrome
RS201976186 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS201976983 CLCN2 Health Risk Pathogenic/Likely pathogenic CLCN2-related disorder, CLCN2-related disorder
RS201977288 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS201977551 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201977682 TOP1MT Health Risk Conflicting classifications of pathogenicity —
RS201978086 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Congestive heart failure
RS201978087 L1CAM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS201978396 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS201978571 MYO15A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS201978662 CFTR Health Risk Pathogenic Cystic fibrosis, CFTR-related disorder
RS201978719 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS201978870 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201979002 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS201979180 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS201979237 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
RS201979258 PHYH Health Risk Conflicting classifications of pathogenicity Phytanic acid storage disease, Inborn genetic diseases
RS201979319 A2ML1 Health Risk Conflicting classifications of pathogenicity Otitis media, susceptibility to
RS201979610 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS201979616 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS201979629 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS201979656 HERC2 Health Risk Conflicting classifications of pathogenicity —
RS201980005 TBCD Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS201980317 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS201980416 AMPD3 Health Risk Conflicting classifications of pathogenicity Erythrocyte AMP deaminase deficiency, Erythrocyte AMP deaminase deficiency
RS201980470 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS201980471 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS201980874 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Inborn genetic diseases
RS201981364 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201981625 ZFPM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201982602 GRIN2B Health Risk Conflicting classifications of pathogenicity Complex neurodevelopmental disorder, Intellectual disability
RS201983356 ACAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201983374 GJB2 Health Risk Conflicting classifications of pathogenicity —
RS201983595 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS201983881 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS201984003 PGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 42
RS201984007 SCN9A Health Risk Conflicting classifications of pathogenicity Paroxysmal extreme pain disorder, Primary erythromelalgia
RS201984297 SUMF1 Health Risk Conflicting classifications of pathogenicity Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS201984572 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS201984824 CKAP2L Health Risk Pathogenic Filippi syndrome, Filippi syndrome
RS201984825 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201984924 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PRPF6-related disorder
RS201985073 ALDH3A2 Health Risk Likely pathogenic —
RS201985170 COL9A2 Health Risk Conflicting classifications of pathogenicity Stickler syndrome, type 5
RS201985242 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS201985394 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS201985838 MAG Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS201985951 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS201985955 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS201986299 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201986472 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS201986622 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS201986784 ROR2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201987018 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS201987106 NPAT Health Risk Conflicting classifications of pathogenicity —
RS201987555 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS201987672 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, SDHD-related disorder
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