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
RS2109376054 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109377653 WDR19 Health Risk Pathogenic Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS2109380796 SGCB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109380824 SGCB Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109380910 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109380938 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109380946 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS2109388978 DOK7 Health Risk Likely pathogenic Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10
RS2109395463 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2109400528 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2109400541 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2109405851 WDR19 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2109411685 CACNA2D2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2109417343 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Congenital myasthenic syndrome 10
RS2109417797 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS2109421369 CACNA2D2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2109460398 OPA1 Health Risk Pathogenic/Likely pathogenic —
RS2109460493 OPA1 Health Risk Pathogenic —
RS2109488570 SRD5A3 Health Risk Likely pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2109489105 SRD5A3 Health Risk Conflicting classifications of pathogenicity SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation
RS2109497413 WDR19 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS2109520891 KIT Health Risk Pathogenic —
RS2109521864 WDR19 Health Risk Pathogenic Spermatogenic failure 72, Spermatogenic failure 72
RS2109523966 REST Health Risk Pathogenic —
RS2109573013 REST Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 27, Autosomal dominant nonsyndromic hearing loss
RS2109578516 REST Health Risk Pathogenic Fibromatosis, gingival
RS2109591981 CEP63 Health Risk Likely pathogenic Seckel syndrome 6, Seckel syndrome 6
RS2109626303 GABRA2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 78
RS2109643293 GABRA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2109661936 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2109671915 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2109671956 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2109673896 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2109674011 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2109674601 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Cutaneous mastocytosis
RS2109692864 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2109705287 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2109769912 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2109773622 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2109775078 GRXCR1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 25, Autosomal recessive nonsyndromic hearing loss 25
RS2109777571 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2109779186 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2109780360 KIT Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS2109782285 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2109792066 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2109794784 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2109794937 KIT Health Risk Conflicting classifications of pathogenicity Piebaldism, Hereditary cancer-predisposing syndrome
RS2109801456 KIT Health Risk Pathogenic Piebaldism, Piebaldism
RS2109810899 KIT Health Risk Likely pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS2109812419 GRXCR1 Health Risk Pathogenic —
RS2109812443 GRXCR1 Health Risk Pathogenic —
RS2109817825 ENAM Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS2109818086 KIT Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS2109818619 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS2109834757 FRAS1 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2109847651 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2109850407 FRAS1 Health Risk Likely pathogenic —
RS2109856354 FRAS1 Health Risk Pathogenic —
RS2109887859 LIAS Health Risk Pathogenic Lipoic acid synthetase deficiency, Lipoic acid synthetase deficiency
RS2109933573 PRKG2 Health Risk Pathogenic Spondylometaphyseal dysplasia, pagnamenta type
RS2109937707 SCARB2 Health Risk Likely pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2109942038 SCARB2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2109944333 SCARB2 Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2109973501 TECRL Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 3, Catecholaminergic polymorphic ventricular tachycardia 3
RS2109988131 GNRHR Health Risk Likely pathogenic —
RS2109995326 DSPP Health Risk Pathogenic —
RS2109996574 DSPP Health Risk Pathogenic —
RS2109998972 DSPP Health Risk Likely pathogenic Dentinogenesis imperfecta type 3, Dentinogenesis imperfecta type 3
RS2109999064 DSPP Health Risk Likely pathogenic Dentinogenesis imperfecta type 2, Dentinogenesis imperfecta type 2
RS2110031828 HNRNPDL Health Risk Likely pathogenic —
RS2110051822 GABRB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 45
RS2110080128 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110087773 PRKG2 Health Risk Pathogenic Acromesomelic dysplasia 4, Acromesomelic dysplasia 4
RS2110089194 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110089248 PKD2 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS2110104722 PKD2 Health Risk Pathogenic/Likely pathogenic Squamous cell lung carcinoma, PKD2-related disorder
RS2110104725 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110104830 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110104859 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110104877 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS2110107069 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110107236 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS2110107239 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110107353 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110109074 ANTXR2 Health Risk Likely pathogenic Hyaline fibromatosis syndrome, Hyaline fibromatosis syndrome
RS2110112018 PKD2 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110112037 PKD2 Health Risk Likely pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110112083 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110112181 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110112194 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110115819 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS2110122856 SRP72 Health Risk Conflicting classifications of pathogenicity —
RS2110127334 PKD2 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease 2, PKD2-related disorder
RS2110127572 CNGA1 Health Risk Likely pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa 49
RS2110128153 CNGA1 Health Risk Pathogenic —
RS2110128608 CNGA1 Health Risk Pathogenic —
RS2110129031 CNGA1 Health Risk Pathogenic —
RS2110129645 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS2110129653 PKD2 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2110130838 CNGA1 Health Risk Pathogenic —
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