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
RS1269943135 SKIC3 Health Risk Pathogenic Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome 1
RS1269948810 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1269951927 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1269957639 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS1269970394 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1269970737 LARS2 Health Risk Pathogenic Perrault syndrome 4, Perrault syndrome 4
RS1269984067 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1269999933 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1270003368 HYDIN Health Risk Likely pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
RS1270005492 PDE6A Health Risk Pathogenic —
RS1270017793 KIZ Health Risk Likely pathogenic —
RS1270039330 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS1270039585 CARMIL2 Health Risk Pathogenic —
RS12700428 IGF2BP3 Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS1270048702 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1270099780 LRP5 Health Risk Likely pathogenic Osteoporosis with pseudoglioma, Osteoporosis with pseudoglioma
RS1270151043 OAT Health Risk Pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1270166239 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1270172263 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1270184350 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1270186626 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1270198704 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1270212178 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1270242791 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1270264665 NSD1 Health Risk Pathogenic —
RS1270271346 MBD4 Health Risk Pathogenic Inborn genetic diseases, Tumor predisposition syndrome 2
RS1270276368 ALG1 Health Risk Likely pathogenic Congenital disorder of glycosylation, Congenital disorder of glycosylation
RS1270283587 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Left ventricular noncompaction cardiomyopathy
RS1270288366 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS1270302810 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS1270309511 WHRN Health Risk Pathogenic —
RS1270312556 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1270315601 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Inborn genetic diseases
RS1270324533 C5 Health Risk Likely pathogenic —
RS1270337982 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1270349297 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1270359418 MANBA Health Risk Pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1270367757 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1270369106 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
RS1270386176 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1270395120 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1270399063 TNPO3 Health Risk Likely pathogenic Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1270399331 CACNA1A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 42
RS1270412613 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS1270417244 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1270417432 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1270423610 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, See cases
RS1270440540 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1270441968 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1270472063 ALMS1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Alstrom syndrome
RS1270472738 IFT172 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 71
RS1270496059 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS1270518681 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth disease X-linked dominant 1
RS1270523244 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease type IXc
RS1270531724 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS1270538282 EMC1 Health Risk Pathogenic —
RS1270552356 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast cancer, susceptibility to
RS1270564492 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS1270593506 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group B
RS1270595568 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS1270628305 NAA15 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 50
RS1270636463 FREM2 Health Risk Pathogenic —
RS1270654737 AHI1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome 3
RS1270674587 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS1270675463 TIMP3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1270702085 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1270704258 CLDN16 Health Risk Likely pathogenic —
RS1270729721 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS1270730854 SYNE1 Health Risk Pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1270740001 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1270747182 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1270749718 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1270752951 SPRED1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Legius syndrome
RS1270766408 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS1270775688 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS1270783041 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastric cancer
RS1270810159 HBA2 Health Risk Pathogenic/Likely pathogenic alpha Thalassemia, Heinz body anemia
RS1270853129 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1270857666 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Cardiovascular phenotype
RS1270867914 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1270869520 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1270887856 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1270892737 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1270894276 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1270910813 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1270911408 OTOG Health Risk Pathogenic/Likely pathogenic —
RS1270916321 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1270971513 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1270977202 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa
RS1270986936 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1271000541 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, MITF-related disorder
RS1271011315 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1271018624 RUNX2 Health Risk Pathogenic —
RS1271025077 GRIN2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS12710260 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1271031981 LAMP2 Health Risk Pathogenic Danon disease, Danon disease
RS1271040251 NAA15 Health Risk Pathogenic —
RS1271064370 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1271065895 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1271107737 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
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