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
RS773728118 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS773729410 GNE Health Risk Pathogenic/Likely pathogenic Sialuria, GNE myopathy
RS773729617 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS773729755 AFG2A Health Risk Pathogenic Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
RS773730492 ALPK3 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS773730834 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS77373192 NCKAP5 Health Risk Conflicting classifications of pathogenicity —
RS773732328 IARS2 Health Risk Likely pathogenic —
RS773734224 CPA6 Health Risk Likely pathogenic —
RS773734233 CBS Health Risk Pathogenic/Likely pathogenic Homocystinuria, HYPERHOMOCYSTEINEMIA
RS773734601 CYSLTR1 Health Risk Conflicting classifications of pathogenicity —
RS773735172 D2HGDH Health Risk Conflicting classifications of pathogenicity D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS773735492 KCNH1 Health Risk Conflicting classifications of pathogenicity KCNH1-related disorder, Inborn genetic diseases
RS773735921 SRRM2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773736333 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS773736505 ANO5 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS773736914 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS773737239 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS773737253 VARS2 Health Risk Pathogenic —
RS773737428 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS773737583 VWF Health Risk Likely pathogenic —
RS773739166 CFTR Health Risk Likely pathogenic Cystic fibrosis, CFTR-related disorder
RS773739293 CRPPA Health Risk Conflicting classifications of pathogenicity Congenital Muscular Dystrophy, alpha-dystroglycan related
RS773739324 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS773740023 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS773740053 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related disorder
RS773740057 CC2D2A Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS773740590 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Inborn genetic diseases
RS773740606 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS773741774 PYGL Health Risk Likely pathogenic —
RS773744136 PCBD1 Health Risk Conflicting classifications of pathogenicity Pterin-4 alpha-carbinolamine dehydratase 1 deficiency, Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
RS773744181 PKD1 Health Risk Likely pathogenic PKD1-related disorder, PKD1-related disorder
RS773744466 DCLRE1B Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS77374493 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS773745319 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS773746281 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Myopathy
RS773746427 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS773746485 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS773746552 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS773748242 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 2
RS773748583 SUCLG1 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 9, Mitochondrial DNA depletion syndrome 9
RS773750204 ALMS1 Health Risk Pathogenic Alstrom syndrome, Cardiovascular phenotype
RS773754134 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS773754382 PSEN2 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 4, Alzheimer disease 4
RS773754673 TTC7A Health Risk Pathogenic/Likely pathogenic Gastrointestinal defects and immunodeficiency syndrome 1, Multiple gastrointestinal atresias
RS77375493 JAK2 Health Risk Pathogenic Acquired polycythemia vera, Primary myelofibrosis
RS773755873 MAP2K1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS773756164 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Patterned macular dystrophy 2
RS773756799 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS773758089 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS773758818 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS773760404 NPHP3 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Nephronophthisis 3
RS773760466 CDKL5 Health Risk Conflicting classifications of pathogenicity Angelman syndrome-like, Developmental and epileptic encephalopathy
RS773761143 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS773763465 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS773763544 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS773763812 ST3GAL3 Health Risk Conflicting classifications of pathogenicity ST3GAL3-related disorder, Early-infantile DEE
RS773764015 HR Health Risk Pathogenic Alopecia universalis congenita, Alopecia universalis congenita
RS773764751 TBC1D2B Health Risk Pathogenic Neurodevelopmental disorder with seizures and gingival overgrowth, Neurodevelopmental disorder with seizures and gingival overgrowth
RS773764995 COLEC10 Health Risk Pathogenic 3MC syndrome 3, 3MC syndrome 3
RS773765255 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS773765879 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS773766107 XIRP2 Health Risk Conflicting classifications of pathogenicity —
RS773766654 CLDN1 Health Risk Pathogenic Neonatal ichthyosis-sclerosing cholangitis syndrome, Neonatal ichthyosis-sclerosing cholangitis syndrome
RS773766679 PHKA2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXa1, Inborn genetic diseases
RS773766788 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS773767253 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS773768491 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS773768685 AP2S1 Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia 3, Familial hypocalciuric hypercalcemia 3
RS773769524 CASQ2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS773769785 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS773770609 SLC13A5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 25
RS773770705 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS77377082 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS773771416 CTNNA1 Health Risk Conflicting classifications of pathogenicity Polyposis syndrome, hereditary mixed
RS773771433 HELLS Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
RS773772398 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS773772683 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS773772842 BRAT1 Health Risk Pathogenic Neonatal-onset encephalopathy with rigidity and seizures, Neonatal-onset encephalopathy with rigidity and seizures
RS773773071 KCNK3 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS773773145 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS773773555 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS773773579 SPG11 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS773774069 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS773774134 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS773774550 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Deficiency of beta-ureidopropionase
RS773775991 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS773776516 APC Health Risk Conflicting classifications of pathogenicity APC-Associated Polyposis Disorders, Hereditary cancer-predisposing syndrome
RS773776767 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS773776995 TOE1 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS773777400 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS773778524 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS773778673 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS773779413 GSS Health Risk Likely pathogenic Glutathione synthetase deficiency with 5-oxoprolinuria, Glutathione synthetase deficiency with 5-oxoprolinuria
RS773779441 DMD Health Risk Pathogenic Nonpapillary renal cell carcinoma, Duchenne muscular dystrophy
RS773779920 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS773780151 TMPRSS3 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal recessive
RS773780196 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS773780435 ALK Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neuroblastoma
RS773780814 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
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