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
RS202047865 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS202048028 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dystonia 28
RS202048083 LIFR Health Risk Conflicting classifications of pathogenicity Stuve-Wiedemann syndrome, Stüve-Wiedemann syndrome 1
RS202048141 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS202048210 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Optic atrophy
RS202048689 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Alstrom syndrome
RS202048855 NEB Health Risk Pathogenic Inborn genetic diseases, Nemaline myopathy 2
RS202049230 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder
RS202049257 SBF1 Health Risk Conflicting classifications of pathogenicity Tip-toe gait, Charcot-Marie-Tooth disease type 4B3
RS202049379 MYH7B Health Risk Conflicting classifications of pathogenicity —
RS202049411 BRF1 Health Risk Likely pathogenic Colorectal cancer, Colorectal cancer
RS202049497 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, CTRC-related disorder
RS202049575 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS202049682 MAP3K20 Health Risk Conflicting classifications of pathogenicity —
RS202049695 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS202049874 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS202049905 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS202049979 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS202050052 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS202050092 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Ehlers-Danlos syndrome
RS202050216 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS202050860 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS202051061 EXT1 Health Risk Conflicting classifications of pathogenicity Multiple congenital exostosis, Multiple congenital exostosis
RS202051129 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS202051267 IFT80 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 2
RS202051373 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome
RS202051683 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, ITGB2-related disorder
RS202052174 CDH23 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa-deafness syndrome, Neurodevelopmental abnormality
RS202052259 KIT Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS202052357 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS202052365 NOD2 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Blau syndrome
RS202052403 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS202052415 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS202052654 DHX38 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS202052720 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS202052814 INTS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202054108 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS202054247 TCEAL4 Health Risk Conflicting classifications of pathogenicity —
RS202054471 SLC27A5 Health Risk Conflicting classifications of pathogenicity —
RS202055128 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS202055246 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202055538 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS202057289 LRP2 Health Risk Conflicting classifications of pathogenicity Prolactin-producing pituitary gland adenoma, High myopia
RS202057318 SCLT1 Health Risk Pathogenic —
RS202057391 CC2D1A Health Risk Conflicting classifications of pathogenicity Smith-Magenis Syndrome-like, Intellectual disability
RS202057459 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS202057770 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype
RS202057799 NMNAT1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 9, Inborn genetic diseases
RS202057812 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202057977 KRT13 Health Risk Conflicting classifications of pathogenicity White sponge nevus 2, Inborn genetic diseases
RS202058123 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS202058504 CPAP Health Risk Pathogenic/Likely pathogenic Microcephaly 6, primary
RS202058544 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS202058604 FGF10 Health Risk Conflicting classifications of pathogenicity Congenital absence of salivary gland, Congenital absence of salivary gland
RS202059067 NRXN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202059499 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS202059535 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Familial infantile myasthenia
RS202059751 PPIB Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
RS202059899 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS202059952 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS202059967 TXNRD2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Glucocorticoid deficiency 5
RS202059991 IL36RN Health Risk Conflicting classifications of pathogenicity Generalized pustular psoriasis, Deficiency of the interleukin-36 receptor antagonist
RS202060087 WNK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pseudohypoaldosteronism type 2B
RS202060209 SLC2A1 Health Risk Conflicting classifications of pathogenicity Childhood onset GLUT1 deficiency syndrome 2, GLUT1 deficiency syndrome 1
RS202060277 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS202060547 ADAM9 Health Risk Conflicting classifications of pathogenicity —
RS202060616 FH Health Risk Conflicting classifications of pathogenicity Fumarase deficiency, Hereditary cancer-predisposing syndrome
RS202060822 TNS3 Health Risk Conflicting classifications of pathogenicity —
RS202060835 MMP2 Health Risk Conflicting classifications of pathogenicity Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS202060864 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS202060910 DNM2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate B, Inborn genetic diseases
RS202061089 ATP8A2 Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS202061237 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS202061419 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202061555 MYH8 Health Risk Conflicting classifications of pathogenicity Hecht syndrome, Hecht syndrome
RS202061556 DIAPH1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS202062631 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS202063433 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS202063628 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS202063843 FMN1 Health Risk Conflicting classifications of pathogenicity —
RS202063874 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, TBCE-related disorder
RS202064075 CLCNKB Health Risk Pathogenic/Likely pathogenic Bartter disease type 3, Bartter disease type 4B
RS202064115 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS202064195 ADSL Health Risk Pathogenic/Likely pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS202064385 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS202064483 EYS Health Risk Conflicting classifications of pathogenicity —
RS202064596 VIPAS39 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, renal dysfunction
RS202064612 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS202065092 PRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202065257 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202065858 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS202066007 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS202066156 NBEAL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS202066173 IRAK1 Health Risk Conflicting classifications of pathogenicity —
RS202066186 SETBP1 Health Risk Likely pathogenic SETBP1-related disorder, SETBP1-related disorder
RS202066215 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS202066269 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS202066386 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS202066574 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease
RS202067055 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
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