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
RS201542180 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS201542621 MRTFA Health Risk Conflicting classifications of pathogenicity —
RS201542666 ABCA12 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4A
RS201542692 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rapadilino syndrome
RS201542762 SERPINF2 Health Risk Conflicting classifications of pathogenicity —
RS201542989 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS201543002 PLEKHA7 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS201543030 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS201543289 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS201543308 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS201543656 SPINT2 Health Risk Likely pathogenic —
RS201543770 CD3E Health Risk Likely pathogenic Immunodeficiency 18, Immunodeficiency 18
RS201543789 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201544025 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS201544164 CYP1B1 Health Risk Conflicting classifications of pathogenicity Glaucoma 3A, Glaucoma 3
RS201544259 GEMIN4 Health Risk Conflicting classifications of pathogenicity —
RS201544295 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS201544310 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS201544540 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Biotin-responsive basal ganglia disease
RS201544686 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases
RS201544715 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS201545032 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201545344 TCTN2 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 24, Meckel syndrome
RS201545393 OTOA Health Risk Conflicting classifications of pathogenicity —
RS201545521 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201546394 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS201546796 F12 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, Factor XII deficiency disease
RS201546972 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201547600 B3GALT6 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS201547988 ANK3 Health Risk Conflicting classifications of pathogenicity —
RS201548032 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, NEK8-related disorder
RS201548223 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS201548700 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS201548788 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS201549050 UBQLN2 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 15, UBQLN2-related disorder
RS201549270 MED13 Health Risk Conflicting classifications of pathogenicity MED13-related disorder, Intellectual developmental disorder 61
RS201549624 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS201550230 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS201550433 RET Health Risk Conflicting classifications of pathogenicity Renal hypodysplasia/aplasia 1, Hirschsprung disease
RS201550522 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS201550531 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS201550600 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS201550645 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS201550951 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS201551671 STAT2 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Inborn genetic diseases
RS201551805 LAMB3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS201551993 PODXL Health Risk Conflicting classifications of pathogenicity PODXL-related disorder, Inborn genetic diseases
RS201552310 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS201552465 SPECC1L Health Risk Conflicting classifications of pathogenicity Teebi hypertelorism syndrome 1, Oculomaxillofacial dysostosis
RS201552497 SCN4A Health Risk Conflicting classifications of pathogenicity Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg
RS201552546 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Inborn genetic diseases
RS201552692 THSD7A Health Risk Conflicting classifications of pathogenicity —
RS201553266 NEB Health Risk Pathogenic Nemaline myopathy 2, Inborn genetic diseases
RS201553464 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS201553718 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS201553765 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201553766 GPKOW Health Risk Conflicting classifications of pathogenicity —
RS201553871 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 45, Retinitis pigmentosa 49
RS201554004 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS201554140 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201554179 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS201554266 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS201554363 CRTAP Health Risk Pathogenic Osteogenesis imperfecta type 7, Ovarian cancer
RS201554378 CHRM3 Health Risk Conflicting classifications of pathogenicity Prune belly syndrome, Prune belly syndrome
RS201554841 DYRK1A Health Risk Conflicting classifications of pathogenicity DYRK1A-related intellectual disability syndrome, Inborn genetic diseases
RS201555148 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Bartter syndrome
RS201555289 WHRN Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 31, Usher syndrome type 2D
RS201555555 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS201555681 KLK4 Health Risk Likely pathogenic Amelogenesis imperfecta type 2A1, Amelogenesis imperfecta type 2A1
RS201555719 FMN1 Health Risk Conflicting classifications of pathogenicity —
RS201555773 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS201556114 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS201556221 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS201556693 RIMS1 Health Risk Conflicting classifications of pathogenicity RIMS1-related disorder, RIMS1-related disorder
RS201556985 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-related disorder
RS201557468 COL11A1 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 37
RS201557833 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, KIDINS220-related disorder
RS201558127 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS201558321 SNORD118 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS201558584 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS201558857 IMPG1 Health Risk Conflicting classifications of pathogenicity —
RS201558875 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201559094 IL7R Health Risk Pathogenic Immunodeficiency 104, T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
RS201559220 PROM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201559289 CCM2 Health Risk Conflicting classifications of pathogenicity Cerebral cavernous malformation 2, Inborn genetic diseases
RS201559472 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS201559643 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS201559855 AUTS2 Health Risk Conflicting classifications of pathogenicity —
RS201559861 LRRK2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Parkinson disease 8, Acute myeloid leukemia
RS201559874 DBT Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS201560025 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Short-rib thoracic dysplasia 13 with or without polydactyly
RS201560036 IL22RA2 Health Risk risk factor Multisystem inflammatory syndrome in children, Multisystem inflammatory syndrome in children
RS201560152 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS201560655 SIX6 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS201560701 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS201560726 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Sarcoma
RS201560745 EFHC2 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability, X-linked intellectual disability
RS201561165 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS201561499 COL4A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Porencephaly 2
RS201561753 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
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