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
RS1013135823 UROD Health Risk Pathogenic UROD-related disorder, UROD-related disorder
RS1013146465 COL4A2 Health Risk Likely pathogenic Cerebral palsy, Cerebral palsy
RS1013147010 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1013157217 KIF22 Health Risk Conflicting classifications of pathogenicity —
RS1013163272 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, Congenital myopathy 10b
RS1013216151 ARSA Health Risk Likely pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS1013222460 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS1013239356 RMRP Health Risk Likely pathogenic Anauxetic dysplasia, Metaphyseal chondrodysplasia
RS1013244700 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1013272556 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS1013280478 ADAMTSL4 Health Risk Pathogenic —
RS1013290424 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1013320485 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1013341756 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1013345784 NAGLU Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-B
RS1013401625 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1013419211 PTPN11 Health Risk Likely pathogenic RASopathy, RASopathy
RS1013432566 LAMB3 Health Risk Pathogenic —
RS1013453454 STX11 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS1013512621 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1013540105 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS1013557835 DPYS Health Risk Conflicting classifications of pathogenicity Dihydropyrimidinase deficiency, Dihydropyrimidinase deficiency
RS1013567047 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1013627013 COL7A1 Health Risk Pathogenic —
RS1013628944 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group I
RS1013696001 C6 Health Risk Pathogenic —
RS1013696397 DLL3 Health Risk Conflicting classifications of pathogenicity —
RS1013724730 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Hereditary cancer-predisposing syndrome
RS1013747861 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1013799989 USH1C Health Risk Pathogenic —
RS1013801316 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1
RS1013805396 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS1013873051 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy, Bethlem myopathy 2
RS1013902509 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1013906172 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS1013939776 AP4B1 Health Risk Pathogenic Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS1013952995 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1013988350 SGCG Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1013995962 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1014022 TTC8 Health Risk Likely pathogenic Retinitis pigmentosa 51, Retinitis pigmentosa 51
RS1014035512 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS1014042332 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS1014082266 CIROP Health Risk Pathogenic Heterotaxy, visceral
RS1014112491 FANCC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia
RS1014146082 POLE Health Risk Conflicting classifications of pathogenicity Facial dysmorphism-immunodeficiency-livedo-short stature syndrome, Colorectal cancer
RS1014151821 CEP78 Health Risk Likely pathogenic —
RS1014152863 CACNA1E Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 69
RS1014179319 FGFR1 Health Risk Conflicting classifications of pathogenicity Osteoglophonic dysplasia, Trigonocephaly 1
RS1014182598 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS1014182946 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS1014184765 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS1014231886 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 13, Primary ciliary dyskinesia
RS1014292464 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS1014304470 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1014307120 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1014315603 BBS2 Health Risk Likely pathogenic Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2
RS1014317450 CANT1 Health Risk Likely pathogenic Epiphyseal dysplasia, multiple
RS1014331186 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1014338528 KDM5C Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1014354752 CEP290 Health Risk Pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS1014358179 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1014371988 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1014388930 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, See cases
RS1014402681 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1014402897 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related disorder, DDX41-related hematologic malignancy predisposition syndrome
RS1014417508 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1014454531 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 13
RS1014471246 TBCD Health Risk Conflicting classifications of pathogenicity —
RS1014479884 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1014496937 VPS13B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1014551540 ASPA Health Risk Likely pathogenic Spongy degeneration of central nervous system, Canavan Disease
RS1014558424 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Prostate cancer
RS1014561815 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1014593243 FAT4 Health Risk Pathogenic —
RS1014627144 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1014631229 COL17A1 Health Risk Pathogenic —
RS1014644520 NGF Health Risk Conflicting classifications of pathogenicity Congenital sensory neuropathy with selective loss of small myelinated fibers, Congenital sensory neuropathy with selective loss of small myelinated fibers
RS1014746277 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1014762661 DES Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Desmin-related myofibrillar myopathy
RS1014776340 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1014835928 BBS1 Health Risk Pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome
RS1014839148 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Autosomal dominant Alport syndrome
RS1014845953 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS1014854435 GPIHBP1 Health Risk Pathogenic —
RS1014876003 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1014902072 CHST14 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, musculocontractural type
RS1014910492 HNRNPK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1014920648 CEP135 Health Risk Likely pathogenic CEP135-related disorder, CEP135-related disorder
RS1014929115 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1014953504 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1014954135 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS1014959895 PRMT7 Health Risk Pathogenic/Likely pathogenic 15 conditions, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS1015014078 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1015026440 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS1015051007 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1015073230 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1015087797 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1015097529 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1015110759 PYGL Health Risk Pathogenic —
RS1015197481 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
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