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
RS201219937 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS201220075 KCNN4 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis 2, Dehydrated hereditary stomatocytosis 2
RS201220144 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS201220208 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS201220226 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS201220311 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS201220519 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Craniosynostosis syndrome
RS201220788 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS201220816 SLC26A3 Health Risk Conflicting classifications of pathogenicity Congenital secretory diarrhea, chloride type
RS201220828 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS201220835 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Inborn genetic diseases
RS201220981 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS201221209 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS201221237 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Familial thyroid dyshormonogenesis
RS201221600 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS201222237 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS201222388 NDUFS7 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS201223321 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201223411 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS201223454 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS201223501 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS201223583 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201223793 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS201223945 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS201223986 CCDC40 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201224213 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS201224400 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS201224423 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS201224700 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS201225986 CLN3 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 3
RS201226058 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS201226082 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS201226297 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS201226547 HUWE1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked syndromic
RS201226914 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS201226974 TTN Health Risk Conflicting classifications of pathogenicity Early-onset myopathy with fatal cardiomyopathy, Cardiovascular phenotype
RS201227519 NGRN Health Risk Conflicting classifications of pathogenicity —
RS201227541 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS201227573 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS201227603 HPS3 Health Risk Pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome
RS201227858 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Majeed syndrome
RS201228075 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SPEG-related disorder
RS201228337 ELF4 Health Risk Conflicting classifications of pathogenicity —
RS201228799 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201229193 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Familial thyroid dyshormonogenesis
RS201229221 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201229339 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS201229537 MRPS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36
RS201229787 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS201230315 TELO2 Health Risk Conflicting classifications of pathogenicity TELO2-related intellectual disability-neurodevelopmental disorder, TELO2-related intellectual disability-neurodevelopmental disorder
RS201230446 DHODH Health Risk Pathogenic/Likely pathogenic Miller syndrome, Miller syndrome
RS201230566 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Achromatopsia 4
RS201230582 CWF19L1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS201230660 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS201230929 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS201231166 CPOX Health Risk Conflicting classifications of pathogenicity Hereditary coproporphyria, Hereditary coproporphyria
RS201231167 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS201231274 PRKDC Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DNA-PKcs deficiency, PRKDC-related disorder
RS201231319 CNGB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201231401 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS201231484 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS201231660 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS201231713 TBX6 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental abnormality, Gastric cancer
RS201231857 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS201231900 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS201231901 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS201232271 GAD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201232288 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS201232514 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, CDH23-related disorder
RS201232840 CWC27 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS201232887 ROR2 Health Risk Conflicting classifications of pathogenicity —
RS201233141 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS201233398 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS201233415 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Inborn genetic diseases
RS201234369 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS201234482 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS201234519 COL2A1 Health Risk Conflicting classifications of pathogenicity COL2A1-related disorder, COL2A1-related disorder
RS201234837 CETP Health Risk Conflicting classifications of pathogenicity —
RS201235216 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS201235573 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201236317 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, ADGRV1-related disorder
RS201236364 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS201236670 VSIG4 Health Risk Conflicting classifications of pathogenicity VSIG4-related disorder, VSIG4-related disorder
RS201237064 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201237264 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS201237799 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, NPHP3-related Meckel-like syndrome
RS201237972 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, Autosomal recessive nonsyndromic hearing loss 59
RS201238241 COQ9 Health Risk Conflicting classifications of pathogenicity Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome, Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
RS201238498 PGK1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS201238640 USH2A Health Risk Likely pathogenic Retinitis pigmentosa, Usher syndrome
RS201238717 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Cowden syndrome
RS201238759 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS201238766 KCNA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS201238945 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, AP3B1-related disorder
RS201239189 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS201239579 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram-like syndrome, Wolfram syndrome 1
RS201239919 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS201240159 C7 Health Risk Conflicting classifications of pathogenicity Complement component 7 deficiency, Ovarian serous cystadenocarcinoma
RS201240289 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS201240519 TTN Health Risk Conflicting classifications of pathogenicity —
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