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
RS114787000 DDX59 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS114788736 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Tibial muscular dystrophy
RS11479 TYMP Health Risk Pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS114791158 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS114796215 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Retinitis pigmentosa
RS114797034 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS114804033 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS114804860 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Sarcoma
RS114806654 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS114810122 RREB1 Health Risk Conflicting classifications of pathogenicity RREB1-related disorder, RREB1-related disorder
RS114817736 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS114817817 SRGAP1 Health Risk Likely benign; risk factor Thyroid cancer, nonmedullary
RS114819130 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS114819374 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS114827737 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS114832108 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS114833236 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS114837786 FREM2 Health Risk Conflicting classifications of pathogenicity Isolated cryptophthalmia, Fraser syndrome 2
RS114838275 GLIS3 Health Risk Conflicting classifications of pathogenicity GLIS3-related disorder, GLIS3-related disorder
RS114845780 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS114846212 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa
RS114849139 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Congenital nephrotic syndrome
RS114851656 CACNA1C Health Risk Conflicting classifications of pathogenicity Brugada syndrome 3, Neurodevelopmental disorder with hypotonia
RS114852262 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS114854233 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS114854791 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS114858512 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS114863111 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS114864530 ZNF335 Health Risk Conflicting classifications of pathogenicity ZNF335-related disorder, ZNF335-related disorder
RS114866803 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Holoprosencephaly 11
RS114867228 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS114868704 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia 1
RS114870847 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Spherocytosis
RS114872818 VLDLR Health Risk Conflicting classifications of pathogenicity Cerebellar ataxia, intellectual disability
RS114875104 NEBL Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, NEBL-related disorder
RS114875539 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa
RS114875802 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS114878910 EXOSC3 Health Risk Pathogenic Pontocerebellar hypoplasia type 1B, Pontocerebellar hypoplasia type 1B
RS114879227 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS114885938 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS114888195 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2-related disorder
RS114889622 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS114891471 ACOX3 Health Risk Conflicting classifications of pathogenicity —
RS114895119 CARD9 Health Risk Conflicting classifications of pathogenicity Predisposition to invasive fungal disease due to CARD9 deficiency, CARD9-related disorder
RS114895145 HRG Health Risk Conflicting classifications of pathogenicity Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency, Thrombus
RS114896482 NPHS1 Health Risk Conflicting classifications of pathogenicity Familial idiopathic steroid-resistant nephrotic syndrome, Finnish congenital nephrotic syndrome
RS114899765 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Inborn genetic diseases
RS114900922 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, 6 conditions
RS114903768 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS114904237 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS114905632 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS114906811 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS114907951 TRAPPC12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRAPPC12-related disorder
RS114912664 TGIF1 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 4, Holoprosencephaly 4
RS114912725 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Infantile nephronophthisis
RS114917863 PDZD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PDZD7-related disorder
RS114919633 SLC26A2 Health Risk Conflicting classifications of pathogenicity Diastrophic dysplasia, Multiple epiphyseal dysplasia type 4
RS114925667 UBA5 Health Risk Pathogenic/Likely pathogenic/Pathogenic, low penetrance Developmental and epileptic encephalopathy, 44
RS114926839 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS114929884 IL1RN Health Risk Conflicting classifications of pathogenicity Sterile multifocal osteomyelitis with periostitis and pustulosis, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS114930663 CYP24A1 Health Risk Conflicting classifications of pathogenicity Hypercalcemia, infantile
RS114930858 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Familial Mediterranean fever
RS114931326 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS114931496 CHMP1A Health Risk Conflicting classifications of pathogenicity CHMP1A-related disorder, CHMP1A-related disorder
RS114935406 ADD3 Health Risk Conflicting classifications of pathogenicity —
RS114940503 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS114941150 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, B3GLCT-related disorder
RS114942206 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS114944116 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Thyroid cancer
RS114945876 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS114946738 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic cancer, susceptibility to
RS114951157 IRAK4 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 67, Immunodeficiency 67
RS114953032 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, Inborn genetic diseases
RS114954140 MEGF8 Health Risk Conflicting classifications of pathogenicity MEGF8-related disorder, Inborn genetic diseases
RS114970039 PTPRC Health Risk Conflicting classifications of pathogenicity Immunodeficiency 104, Hepatitis C virus
RS114970874 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS114972594 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS114973968 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS114975624 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS114982090 UGT1A1 Health Risk Conflicting classifications of pathogenicity BILIRUBIN, SERUM LEVEL OF
RS114982270 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, MYO3A-related disorder
RS114986640 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS114988007 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS114993407 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS114994257 SYNJ1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 53
RS114996731 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS115003742 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS115005766 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS115010488 SBF1 Health Risk Conflicting classifications of pathogenicity —
RS115013051 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS1150181 ACTN2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1AA
RS115020236 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS115020338 POLR3A Health Risk Pathogenic/Likely pathogenic Leukodystrophy, hypomyelinating
RS115030299 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, SLC3A1-related disorder
RS115030945 FSHR Health Risk Conflicting classifications of pathogenicity Ovarian dysgenesis 1, Ovarian hyperstimulation syndrome
RS115031549 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS115033293 EXPH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS115033462 MCPH1 Health Risk Conflicting classifications of pathogenicity —
RS115033851 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS115035120 RELN Health Risk Conflicting classifications of pathogenicity Self-limited epilepsy with centrotemporal spikes, Norman-Roberts syndrome
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