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
RS774249402 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS774250209 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS774250815 TRIM37 Health Risk Pathogenic —
RS774251286 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS774252307 NDUFA12 Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 23
RS774252565 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS774252647 GFM1 Health Risk Pathogenic —
RS774253048 C9 Health Risk Pathogenic/Likely pathogenic Complement component 9 deficiency, Age related macular degeneration 15
RS774255090 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS774255124 MYO15A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS774255399 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS774256022 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS774256040 AMPD2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9
RS774256651 NBN Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Microcephaly
RS774256786 TYMP Health Risk Likely pathogenic —
RS774256831 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS774258077 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS774258585 OPTN Health Risk Pathogenic/Likely pathogenic Glaucoma 1, open angle
RS774259910 ABHD16A Health Risk Pathogenic Complex hereditary spastic paraplegia, Spastic paraplegia 86
RS774261368 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS774261851 ERCC3 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group B, Trichothiodystrophy 2
RS774261860 KATNIP Health Risk Pathogenic Joubert syndrome 26, Joubert syndrome 26
RS774262180 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS774263130 WDR72 Health Risk Likely pathogenic —
RS774263134 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Cardiovascular phenotype
RS774264204 CNGB1 Health Risk Pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa
RS774265657 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS774265693 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774265764 WFS1 Health Risk Pathogenic/Likely pathogenic Cataract 41, Autosomal dominant nonsyndromic hearing loss 6
RS774266879 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS774268095 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 40, Retinitis pigmentosa 40
RS774268232 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS774269719 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome
RS774270631 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS774270653 LRP5 Health Risk Conflicting classifications of pathogenicity Familial exudative vitreoretinopathy, Ovarian serous cystadenocarcinoma
RS774270919 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiomyopathy
RS774271975 RPGRIP1 Health Risk Pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS774273767 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS774274614 ITGA3 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 7
RS774274636 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS774274702 TG Health Risk Pathogenic/Likely pathogenic Iodotyrosyl coupling defect, Autoimmune thyroid disease
RS774275044 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS774275482 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS774276092 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS774276326 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS774276967 MED27 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with spasticity, cataracts
RS774277094 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS774277300 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS774277532 STAT2 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection, Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
RS774278391 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS774278686 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Ovarian cancer
RS774279058 AGPS Health Risk Conflicting classifications of pathogenicity —
RS774279192 CHRNG Health Risk Pathogenic CHRNG-related disorder, Autosomal recessive multiple pterygium syndrome
RS774279588 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774279751 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS774279982 GMNN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Meier-Gorlin syndrome 6
RS774280238 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS774280710 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS774281185 GHRHR Health Risk Likely pathogenic Isolated growth hormone deficiency, type 4
RS774281788 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS774281852 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS774283073 TTPA Health Risk Conflicting classifications of pathogenicity Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS774283170 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS774283264 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS774283364 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS774288177 TMEM67 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 11, Meckel syndrome
RS774288495 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS774288859 TGM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774289573 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS774290415 COCH Health Risk Conflicting classifications of pathogenicity —
RS774290802 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS774290827 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS774291653 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS774293212 MYH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774294963 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS774294999 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS774296358 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS774296531 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS774296730 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS774297305 CPLANE1 Health Risk Pathogenic —
RS774298278 DNAH1 Health Risk Pathogenic Ciliary dyskinesia, primary
RS774299094 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS774299871 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS774300377 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS774302298 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS774302679 RECQL Health Risk Conflicting classifications of pathogenicity —
RS774304164 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774304336 SCN4A Health Risk Pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS774304709 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS774306610 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS774308165 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS774308309 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, Inborn genetic diseases
RS774308391 DNAAF3 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774308815 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Chorea-acanthocytosis
RS774309607 RPE65 Health Risk Likely pathogenic Leber congenital amaurosis 2, Retinitis pigmentosa 20
RS774309647 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy
RS774309765 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS774309925 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS774310774 FECH Health Risk Pathogenic —
RS774312036 DHTKD1 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, Nonpapillary renal cell carcinoma
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