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
RS149708395 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS149708528 NDP Health Risk Conflicting classifications of pathogenicity —
RS149709084 SLC27A5 Health Risk Conflicting classifications of pathogenicity SLC27A5-related disorder, SLC27A5-related disorder
RS149709766 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS149710600 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS149710901 HSPG2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, HSPG2-related disorder
RS149711133 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS149712244 PLA2G6 Health Risk Pathogenic/Likely pathogenic Iron accumulation in brain, Neurodegeneration with brain iron accumulation 2B
RS149712464 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS149712664 CABP2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 93, Hearing loss
RS149713137 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS149713462 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS149715258 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS149715830 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS149717587 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS149717617 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS149718203 COX15 Health Risk Pathogenic/Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS149718388 KIF21A Health Risk Conflicting classifications of pathogenicity Congenital fibrosis of extraocular muscles type 1, KIF21A-related disorder
RS149718460 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS149718548 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS149718671 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS149718832 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS149721361 FANCG Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS149722210 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS149723645 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS149724027 TBX6 Health Risk Conflicting classifications of pathogenicity —
RS149724713 DSG4 Health Risk Conflicting classifications of pathogenicity Hypotrichosis 6, Hypotrichosis 6
RS149724958 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149725439 USB1 Health Risk Conflicting classifications of pathogenicity Poikiloderma with neutropenia, Poikiloderma with neutropenia
RS149726115 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Potassium-aggravated myotonia
RS149726976 GALNT12 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS149727518 EXT2 Health Risk Conflicting classifications of pathogenicity Exostoses, multiple
RS149727630 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149729088 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS149729531 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS149730454 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS149730492 HEPACAM Health Risk Conflicting classifications of pathogenicity Megalencephalic leukoencephalopathy with subcortical cysts 2A, Inborn genetic diseases
RS149730980 SPART Health Risk Conflicting classifications of pathogenicity Troyer syndrome, Troyer syndrome
RS149731085 NFASC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149731632 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS149732757 STYXL2 Health Risk Conflicting classifications of pathogenicity —
RS149733159 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, FBN2-related disorder
RS149733287 ELAC2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 17, Malignant tumor of urinary bladder
RS149733854 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Autosomal recessive nonsyndromic hearing loss 29
RS149733911 KDM5C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS149734466 CILK1 Health Risk Conflicting classifications of pathogenicity —
RS149734938 C2CD3 Health Risk Conflicting classifications of pathogenicity C2CD3-related disorder, Inborn genetic diseases
RS149735061 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149735722 NLRC5 Health Risk Conflicting classifications of pathogenicity —
RS149735961 NLRP2 Health Risk Conflicting classifications of pathogenicity —
RS149737236 L1CAM Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS149737572 MCM5 Health Risk Conflicting classifications of pathogenicity —
RS149737658 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS149737825 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS149739570 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS149740758 KDR Health Risk Conflicting classifications of pathogenicity —
RS149740779 PIGT Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 3, PIGT-related disorder
RS149741581 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy
RS149741810 EYS Health Risk Pathogenic —
RS149742998 EPB42 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 5, EPB42-related disorder
RS149745343 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS149746031 DEAF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149747514 ALAS2 Health Risk Conflicting classifications of pathogenicity ALAS2-related disorder, ALAS2-related disorder
RS149751840 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS149752078 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS149753251 CSF1R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149753273 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS149753411 GATA1 Health Risk Conflicting classifications of pathogenicity GATA1-related disorder, Diamond-Blackfan anemia
RS149753643 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Mitochondrial complex I deficiency
RS149753706 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Invasive breast carcinoma
RS149754073 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS149755500 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS149758860 B9D1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS149759021 FOXP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149759218 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS149759513 HPS1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome
RS149759840 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149760366 FOCAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cervical cancer
RS149760582 NBAS Health Risk Pathogenic —
RS149761259 SPOUT1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder with poor growth
RS149762843 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS149762881 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS149763294 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS149763341 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS149763880 RECQL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, RECQL-related disorder
RS149764887 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS149765220 ZAP70 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Combined immunodeficiency due to ZAP70 deficiency
RS149765446 TPM3 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with fiber type disproportion, Congenital myopathy 4B
RS149766077 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease type 1B, Maple syrup urine disease
RS149766340 WDR81 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149766574 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Childhood onset hearing loss
RS149766676 LHCGR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149768069 ARHGEF6 Health Risk Conflicting classifications of pathogenicity —
RS149768519 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS149768871 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS149769844 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS149770879 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS149772252 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS149772470 KARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate B, Hearing impairment
RS149772796 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cowden syndrome 1
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