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
RS147650614 KLHL41 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 9, Nemaline myopathy 9
RS1476515561 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS147651604 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS147652186 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS147652512 SBDS Health Risk Conflicting classifications of pathogenicity —
RS1476532344 SCN8A Health Risk Conflicting classifications of pathogenicity Cognitive impairment with or without cerebellar ataxia, Early-infantile DEE
RS1476533863 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS147653673 PYCR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive cutis laxa type 2B, PYCR1-related de Barsy syndrome
RS1476546104 COL2A1 Health Risk Likely pathogenic Platyspondylic dysplasia, Torrance type
RS1476546899 CNGA1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS147654995 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS147655222 STAT6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147655952 PLCB4 Health Risk Conflicting classifications of pathogenicity Auriculocondylar syndrome 2, Inborn genetic diseases
RS147656110 SLC5A7 Health Risk Likely pathogenic Congenital myasthenic syndrome 20, Neuronopathy
RS147656722 DHCR24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147656831 DDX11 Health Risk Conflicting classifications of pathogenicity Warsaw breakage syndrome, Familial cancer of breast
RS147657016 OTOF Health Risk Conflicting classifications of pathogenicity —
RS147657304 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, LAMC2-related disorder
RS1476574441 MRAP Health Risk Pathogenic Glucocorticoid deficiency 1, Glucocorticoid deficiency 2
RS147657490 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS147657999 NAXD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1476585944 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS147658637 AIMP2 Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1476588496 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS147659527 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS147660312 NBAS Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1476605916 SLC12A6 Health Risk Pathogenic —
RS147661107 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS1476614745 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Thyroid cancer
RS1476621612 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1476636108 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, RUNX1-related disorder
RS1476637197 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS147663769 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS147666072 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS1476664656 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS147667464 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS147667964 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS1476680673 AK2 Health Risk Pathogenic Reticular dysgenesis, Reticular dysgenesis
RS1476689323 MTHFR Health Risk Likely pathogenic —
RS147669174 TRPV3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147669300 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS1476695915 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS147669627 RAD51D Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS147669915 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS147670568 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS147671523 INSR Health Risk Conflicting classifications of pathogenicity Hyperinsulinism due to INSR deficiency, Leprechaunism syndrome
RS147672303 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1476723489 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1476725701 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS147673636 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS1476737505 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS1476737595 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS147674217 POGLUT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147674513 CCDC22 Health Risk Conflicting classifications of pathogenicity —
RS147674615 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS147674677 FGFR2 Health Risk Conflicting classifications of pathogenicity Crouzon syndrome, Isolated Coronal Synostosis
RS147675550 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS1476760624 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS147676614 LZTS1 Health Risk Conflicting classifications of pathogenicity —
RS147676957 LAMA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMA1-related disorder
RS1476775959 CHD3 Health Risk Likely pathogenic —
RS1476780334 NPAT Health Risk Conflicting classifications of pathogenicity —
RS147678255 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
RS1476787716 BMP7 Health Risk Pathogenic Congenital heart defects, multiple types
RS147679383 ZFHX3 Health Risk Conflicting classifications of pathogenicity —
RS147679793 RANGRF Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS147680018 RP1 Health Risk Conflicting classifications of pathogenicity —
RS147680216 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS1476814352 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS1476819432 POLR3A Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS147682682 MITF Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 2A, MITF-related disorder
RS147682800 CNOT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1476831557 FKBP10 Health Risk Pathogenic —
RS147683438 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS147683525 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS1476836379 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS147684303 SLC12A1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 1, Bartter disease type 1
RS147684440 B9D1 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 9
RS1476850082 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1476852507 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS1476853180 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS1476855887 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1476856429 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4A
RS147685849 NDUFS1 Health Risk Conflicting classifications of pathogenicity —
RS1476863555 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS1476871700 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS147688139 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS147688221 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS147688332 LRP2 Health Risk Conflicting classifications of pathogenicity LRP2-related disorder, Donnai-Barrow syndrome
RS1476883790 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS147688807 LRP4 Health Risk Conflicting classifications of pathogenicity Cenani-Lenz syndactyly syndrome, Sclerosteosis 2
RS147688821 SLC27A4 Health Risk Pathogenic/Likely pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS147689373 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, PKLR-related disorder
RS1476896214 OTOGL Health Risk Likely pathogenic OTOGL-related disorder, OTOGL-related disorder
RS147690017 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147690079 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS1476919390 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS147692158 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS1476922493 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS147692872 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
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