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
RS780268243 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Fraser syndrome 2
RS780268322 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS780269667 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS780269723 SYN1 Health Risk Conflicting classifications of pathogenicity Epilepsy, X-linked 1
RS780269741 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS780269941 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS780270096 RTTN Health Risk Likely pathogenic Primary microcephaly, Microcephalic primordial dwarfism due to RTTN deficiency
RS780270249 CFD Health Risk Likely pathogenic Recurrent Neisseria infections due to factor D deficiency, Recurrent Neisseria infections due to factor D deficiency
RS780271684 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS780271859 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 64
RS780273573 TUFM Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 4, Combined oxidative phosphorylation defect type 4
RS780274581 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS780274878 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Cardiomyopathy
RS780275226 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780275367 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS780275814 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS780276741 ABCC6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive inherited pseudoxanthoma elasticum, Pseudoxanthoma elasticum
RS780276807 NSMCE2 Health Risk Likely pathogenic Seckel syndrome 10, Seckel syndrome 10
RS780276809 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS780277266 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Benign familial hematuria
RS780278315 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS780278874 PKD1L1 Health Risk Pathogenic Heterotaxy, visceral
RS780279081 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS780280433 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS780280765 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS780281065 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS780281329 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS780281715 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS780281959 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS780283055 DYNC2I2 Health Risk Likely pathogenic Short-rib thoracic dysplasia 11 with or without polydactyly, Short-rib thoracic dysplasia 11 with or without polydactyly
RS780283588 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS780283759 PSMB4 Health Risk Conflicting classifications of pathogenicity —
RS780283825 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS780284489 ADAR Health Risk Conflicting classifications of pathogenicity Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS78028658 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS780286639 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS780286947 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS780287361 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS780288372 ASNS Health Risk Likely pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS780290586 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Autosomal recessive Alport syndrome
RS780292269 SH3PXD2B Health Risk Conflicting classifications of pathogenicity SH3PXD2B-related disorder, SH3PXD2B-related disorder
RS780292620 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS780292767 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS780293535 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS780293564 MECOM Health Risk Conflicting classifications of pathogenicity MECOM-related disorder, Inborn genetic diseases
RS780295902 ITGB4 Health Risk Pathogenic —
RS780296175 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS780296577 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS780297843 LMNB2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 9, Lipodystrophy
RS780298807 HNF1A Health Risk Likely pathogenic —
RS780299183 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS780299346 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS780299444 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS780299519 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS780299553 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780299621 LRTOMT Health Risk Conflicting classifications of pathogenicity —
RS780299880 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS780300091 NTRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis
RS780301164 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS780301639 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS780301913 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS780302064 LMNA Health Risk Pathogenic/Likely pathogenic Muscular dystrophy, Charcot-Marie-Tooth disease type 2
RS780304038 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS780304828 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Thyroid cancer
RS780306040 TRPV6 Health Risk Likely pathogenic Slender long bone, Hyperparathyroidism
RS780306423 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS780308389 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Retinal dystrophy
RS780310274 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS780311417 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS780312005 ENTPD1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 64, Inborn genetic diseases
RS780313786 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, Glioma susceptibility 1
RS780314191 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS780314338 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS780314340 GRIN2D Health Risk Conflicting classifications of pathogenicity —
RS780314370 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS780314793 COL4A3 Health Risk Pathogenic/Likely pathogenic —
RS780314819 TRMU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRMU-related disorder
RS780314895 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS780315450 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS780317106 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS780317287 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS780317617 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS780318765 DOCK2 Health Risk Likely pathogenic DOCK2 deficiency, DOCK2 deficiency
RS780319278 GFM1 Health Risk Conflicting classifications of pathogenicity —
RS780319735 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS780319875 TBXA2R Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS780320440 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS780321144 ABCA1 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS780321415 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS780321508 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS780322906 PKD1 Health Risk Pathogenic —
RS780323819 GCM2 Health Risk Likely pathogenic —
RS780325204 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS780325609 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, AFF4-related disorder
RS780326768 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS780327716 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS780328279 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS780329057 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS780329058 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS780330020 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
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