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
RS145787995 CRYM Health Risk Conflicting classifications of pathogenicity CRYM-related disorder, CRYM-related disorder
RS145787996 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Autoinflammatory syndrome
RS1457889952 SOD1 Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 1, See cases
RS145789167 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS145789542 CABP4 Health Risk Conflicting classifications of pathogenicity —
RS145789868 MMP21 Health Risk Likely pathogenic Heterotaxy, visceral
RS145790217 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS145790245 PTGFRN Health Risk Conflicting classifications of pathogenicity —
RS1457904408 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS145790898 LARP7 Health Risk Pathogenic —
RS1457913004 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS145792427 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, SLC22A5-related disorder
RS1457925404 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS1457926450 NEFL Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
RS145793634 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1457937638 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS145793923 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS145794301 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS145795023 SNX14 Health Risk Conflicting classifications of pathogenicity SNX14-related disorder, SNX14-related disorder
RS1457950469 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS145795884 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS145796901 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1457971953 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS145798106 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS145798229 CLCNKB Health Risk Conflicting classifications of pathogenicity Bartter disease type 3, Bartter disease type 4B
RS145798311 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS145798966 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS145799181 NUP210 Health Risk Conflicting classifications of pathogenicity —
RS1457993750 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS145799900 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS145799939 C2 Health Risk Conflicting classifications of pathogenicity —
RS1458001028 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS145800354 PROC Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein C deficiency, autosomal dominant
RS1458008918 TMC6 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS145802357 GBA2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 46
RS1458030656 RTTN Health Risk Likely pathogenic —
RS1458038548 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1458045074 PIGN Health Risk Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS145804755 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, SLC19A3-related disorder
RS1458048713 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS1458049542 GFPT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS145805694 CRX Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 7
RS1458060011 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS145806727 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS145807002 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS145807061 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS145807501 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-congenital disorder of glycosylation
RS1458077502 AXIN2 Health Risk Pathogenic/Likely pathogenic Oligodontia-cancer predisposition syndrome, AXIN2-related disorder
RS1458080834 ANKS6 Health Risk Likely pathogenic Nephronophthisis 16, Nephronophthisis 16
RS145808264 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Naxos disease
RS145808793 SLC7A14 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS145808884 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS145809210 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, ACE-related disorder
RS145809527 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS145809648 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1458096844 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS145809731 ATP6V0A4 Health Risk Pathogenic Autosomal recessive distal renal tubular acidosis, Renal tubular acidosis
RS145810355 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS1458106178 GEMIN5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS145811412 LTBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LTBP2-related disorder
RS145811533 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS145811554 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1458116788 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1458120855 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS145812385 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, LRBA-related disorder
RS145812395 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS145813597 SORD Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS145813943 POLR1C Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 3, POLR1C-related disorder
RS145814071 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS1458149576 GLI2 Health Risk Likely pathogenic Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS145815113 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related myopathy
RS145815264 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS145815606 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS145815993 TMEM230 Health Risk Conflicting classifications of pathogenicity —
RS1458162832 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS145816878 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS1458171628 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS1458174396 NDUFS6 Health Risk Likely pathogenic —
RS145817936 SRP72 Health Risk Conflicting classifications of pathogenicity Autosomal dominant aplasia and myelodysplasia, Autosomal dominant aplasia and myelodysplasia
RS1458183004 FIG4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS145818316 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome type 1, Proteinuria
RS145819043 SYNE1 Health Risk Likely pathogenic Arthrogryposis multiplex congenita 3, myogenic type
RS1458192795 CNGB3 Health Risk Pathogenic —
RS145819459 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS1458197554 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1458204589 PLXND1 Health Risk Pathogenic Congenital heart defects, multiple types
RS145821912 COL9A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Stickler syndrome
RS1458224681 STAT2 Health Risk Pathogenic Pseudo-TORCH syndrome 3, Pseudo-TORCH syndrome 3
RS145822836 CRAT Health Risk Conflicting classifications of pathogenicity —
RS145823218 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, L1CAM-related disorder
RS145823665 ADAMTS18 Health Risk Conflicting classifications of pathogenicity ADAMTS18-related disorder, Inborn genetic diseases
RS145823996 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS1458242393 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Dilated cardiomyopathy 1J
RS1458254313 PCNT Health Risk Pathogenic —
RS145825553 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, See cases
RS145825654 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS145826377 FAM111A Health Risk Likely pathogenic Osteocraniostenosis, Osteocraniostenosis
RS145827073 PKD1L1 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS145827578 SLC1A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SLC1A2-related disorder
RS145827881 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
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