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
RS75365049 TOPAZ1 Health Risk Conflicting classifications of pathogenicity —
RS753650776 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS753651666 CYP11B1 Health Risk Conflicting classifications of pathogenicity Deficiency of steroid 11-beta-monooxygenase, Glucocorticoid-remediable aldosteronism
RS753651742 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS753652169 CHAT Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 4C, Familial infantile myasthenia
RS753654616 F9 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease
RS753654674 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS753655744 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome
RS753656246 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS753656470 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Focal segmental glomerulosclerosis
RS753656531 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS753657349 PRPH2 Health Risk Likely pathogenic Macular dystrophy, PRPH2-related disorder
RS753657631 GABRD Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Inborn genetic diseases
RS753658170 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Progressive myoclonic epilepsy type 3
RS753659298 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS753659345 DNAH1 Health Risk Likely pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS753659619 BCAT2 Health Risk Pathogenic Hypervalinemia and hyperleucine-isoleucinemia, Hypervalinemia and hyperleucine-isoleucinemia
RS753659852 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Benign familial hematuria
RS753659949 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Neonatal severe primary hyperparathyroidism
RS753660142 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS753660549 TUBGCP6 Health Risk Likely pathogenic —
RS753660907 POLE Health Risk Conflicting classifications of pathogenicity Intrauterine growth retardation, metaphyseal dysplasia
RS753662262 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753662330 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS753662982 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, DYNC2H1-related disorder
RS753663016 ERCC8 Health Risk Pathogenic —
RS753664074 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS753664225 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS753664726 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS753665097 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS753665308 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS753665968 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS753666055 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS753666447 NUP85 Health Risk Conflicting classifications of pathogenicity —
RS753666460 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS753666498 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS753666778 ANOS1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 1 with or without anosmia, Inborn genetic diseases
RS753667280 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS753667370 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS753667658 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS753670246 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS753670589 IQCE Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753671152 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS753671672 CIT Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS753671880 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS753673450 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS753673862 GABBR2 Health Risk Conflicting classifications of pathogenicity —
RS753674382 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Inborn genetic diseases
RS753674918 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS753675356 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS753675648 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS753676774 FGF23 Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypophosphatemic rickets, Tumoral calcinosis
RS753676934 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS753677011 RAG2 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency with skin granulomas, Combined immunodeficiency with skin granulomas
RS753677285 CNTNAP1 Health Risk Pathogenic —
RS753677364 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS753677499 VIPAS39 Health Risk Pathogenic —
RS753677978 CA5A Health Risk Pathogenic CA5A-related disorder, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
RS753679094 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS753679234 BSCL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753679297 RNASEH2A Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 4, Inborn genetic diseases
RS753679568 MME Health Risk Pathogenic —
RS753680111 ANKLE2 Health Risk Likely pathogenic Microcephaly 16, primary
RS753680242 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS753681184 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Inborn genetic diseases
RS753682653 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS753683126 COL1A1 Health Risk Pathogenic Infantile cortical hyperostosis, Osteogenesis imperfecta
RS753683243 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS753685944 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS753686197 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS753686281 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS753686672 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS753686702 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS753687039 PDE6A Health Risk Likely pathogenic —
RS753687060 PNPLA1 Health Risk Pathogenic Congenital ichthyosiform erythroderma, Autosomal recessive congenital ichthyosis 10
RS753687760 TMC1 Health Risk Pathogenic Nonsyndromic genetic hearing loss, Nonsyndromic genetic hearing loss
RS753688167 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CREBBP-related disorder
RS753688777 MTSS2 Health Risk Pathogenic/Likely pathogenic MTSS2-related neurodevelopmental disorder, Intellectual developmental disorder with ocular anomalies and distinctive facial features
RS753690225 PCDH15 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 1F
RS753690348 NEUROD1 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, Maturity-onset diabetes of the young type 6
RS753690365 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS753691079 GDF5 Health Risk Pathogenic Brachydactyly type C, Brachydactyly type C
RS753691962 ANKRD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KBG syndrome
RS753692696 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS753692812 CNGA3 Health Risk Likely pathogenic —
RS753694698 ANK3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS753694760 TRDN Health Risk Likely pathogenic TRDN-related disorder, TRDN-related disorder
RS753694905 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS753695099 MAN2B1 Health Risk Pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS753695101 RNASEH2A Health Risk Pathogenic Aicardi-Goutieres syndrome 4, Aicardi-Goutieres syndrome 4
RS753695521 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS753696173 ERCC2 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 2, Ovarian cancer
RS753696648 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS753696656 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS753696924 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS753697730 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS753697847 SPATA7 Health Risk Pathogenic Leber congenital amaurosis 3, Retinitis pigmentosa 94
RS753698250 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS753698480 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS753698911 ASH1L Health Risk Conflicting classifications of pathogenicity See cases, See cases
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