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
RS1304109530 ATP8A2 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS1304119807 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1304131217 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1304140510 COL12A1 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1304146232 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1304160279 CA2 Health Risk Likely pathogenic Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS1304172230 CNGA1 Health Risk Pathogenic —
RS1304183009 GRM6 Health Risk Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS1304201852 PTH1R Health Risk Pathogenic Chondrodysplasia Blomstrand type, Chondrodysplasia Blomstrand type
RS1304218104 DMD Health Risk Pathogenic —
RS1304228309 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS1304244536 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1304251276 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1304277420 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1304291054 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS1304300872 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS1304320833 TMEM216 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 2
RS1304351755 PALB2 Health Risk Pathogenic Familial cancer of breast, Breast-ovarian cancer
RS1304362773 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1304382790 DYNLT2B Health Risk Pathogenic —
RS1304394441 ALPL Health Risk Pathogenic/Likely pathogenic Adult hypophosphatasia, Hypophosphatasia
RS1304410089 DSP Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 8
RS1304418053 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1304421147 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1304422857 UBE3B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Oculocerebrofacial syndrome
RS1304430926 CEP290 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1304430967 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1304441113 ELN Health Risk Conflicting classifications of pathogenicity ELN-related disorder, ELN-related disorder
RS1304446470 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS1304451467 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS1304454699 POLK Health Risk Pathogenic Prostate cancer, Prostate cancer
RS1304456183 SLC17A5 Health Risk Pathogenic Salla disease, Salla disease
RS1304467714 TMEM43 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 5, Arrhythmogenic right ventricular dysplasia 5
RS1304504006 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1304506273 DUOX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1304533019 DNAAF1 Health Risk Likely pathogenic DNAAF1-related disorder, DNAAF1-related disorder
RS1304534644 SLC26A3 Health Risk Likely pathogenic SLC26A3-related disorder, SLC26A3-related disorder
RS1304560157 SQSTM1 Health Risk Likely pathogenic Neurodegeneration with ataxia, dystonia
RS1304570979 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1304588947 ITGB4 Health Risk Pathogenic —
RS1304629512 TRAF3IP2 Health Risk Pathogenic Candidiasis, familial
RS1304634005 PMS2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 4, Hereditary cancer-predisposing syndrome
RS1304635321 COL4A4 Health Risk Pathogenic —
RS1304643689 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1304645785 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1304648449 SETD5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1304655615 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS1304667430 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1304669003 CBS Health Risk Pathogenic/Likely pathogenic Classic homocystinuria, Homocystinuria
RS1304689724 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS1304694234 LIG4 Health Risk Pathogenic DNA ligase IV deficiency, DNA ligase IV deficiency
RS1304695155 HNF1B Health Risk Uncertain significance/Uncertain risk allele Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS1304701232 PRKCG Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS1304706298 TARDBP Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS
RS1304713296 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS1304714042 PCCB Health Risk Pathogenic/Likely pathogenic Propionic acidemia, Propionic acidemia
RS1304742332 TTN Health Risk Conflicting classifications of pathogenicity —
RS1304756557 ACTL6B Health Risk Likely pathogenic ACTL6B-related BAFopathy, ACTL6B-related BAFopathy
RS1304758484 CNGB1 Health Risk Pathogenic —
RS1304770743 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS1304787573 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1304795371 PSMB8 Health Risk Conflicting classifications of pathogenicity Proteosome-associated autoinflammatory syndrome, Inborn genetic diseases
RS1304802474 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1304809213 FANCM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1304811464 CNGA1 Health Risk Pathogenic —
RS1304822359 PHIP Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1304832284 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS1304839135 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1304839707 SYK Health Risk Likely pathogenic Decreased circulating immunoglobulin concentration, Arthritis
RS1304842966 TTN Health Risk Likely pathogenic —
RS1304859870 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1304867450 GRIK2 Health Risk Likely pathogenic —
RS1304878514 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1304888945 COL6A1 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1304893896 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1304896406 MCCC2 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1304908704 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1304915034 RTN4IP1 Health Risk Pathogenic —
RS1304918115 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1304952446 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1304970506 APC Health Risk Pathogenic Gastric cancer, Gastric cancer
RS1304993462 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1305000119 EYA4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS1305005935 PRODH Health Risk Pathogenic Proline dehydrogenase deficiency, Proline dehydrogenase deficiency
RS1305006253 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS1305026083 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1305041953 OXGR1 Health Risk Pathogenic Nephrolithiasis, calcium oxalate
RS1305053560 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS1305063593 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1305070555 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1305146157 USH2A Health Risk Pathogenic —
RS1305147387 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1305170860 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS1305173000 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1305181844 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS1305209476 PEPD Health Risk Likely pathogenic Prolidase deficiency, Prolidase deficiency
RS1305222903 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1305258765 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS1305262063 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1305269957 LIFR Health Risk Pathogenic —
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