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
RS140856217 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS140856583 FBXW7 Health Risk Pathogenic Developmental delay, hypotonia
RS140857065 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS140857707 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS140857846 AMOT Health Risk Conflicting classifications of pathogenicity —
RS1408583008 RARS2 Health Risk Pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS140858817 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS140858903 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS1408589058 COASY Health Risk Likely pathogenic See cases, See cases
RS1408598940 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS140860135 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Inborn genetic diseases
RS140860254 PIGG Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 53
RS140860906 TMEM127 Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Hereditary cancer-predisposing syndrome
RS1408614204 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS140862613 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS140863092 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1408633343 RMRP Health Risk Pathogenic Anauxetic dysplasia, Anauxetic dysplasia
RS140863916 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS140864473 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS140864640 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1408646734 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1408659659 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS1408664815 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS140866787 PODXL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PODXL-related disorder
RS1408671093 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1408673965 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS140867718 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1408682771 LCT Health Risk Pathogenic —
RS1408683294 RASGRP1 Health Risk Pathogenic Immunodeficiency 64, Immunodeficiency 64
RS1408683917 PXDN Health Risk Pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS140868609 NBAS Health Risk Conflicting classifications of pathogenicity NBAS-related disorder, Uterine carcinosarcoma
RS140868852 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS140869022 OXCT1 Health Risk Conflicting classifications of pathogenicity Succinyl-CoA acetoacetate transferase deficiency, OXCT1-related disorder
RS140869027 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS140869490 SLC34A3 Health Risk Conflicting classifications of pathogenicity SLC34A3-related disorder, Inborn genetic diseases
RS140869579 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, USH1C-related disorder
RS1408696693 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1408705745 LATS1 Health Risk Likely pathogenic Malignant peritoneal mesothelioma, Malignant peritoneal mesothelioma
RS1408712462 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS1408719214 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS140872303 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1408726129 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS140872639 COL6A6 Health Risk Conflicting classifications of pathogenicity —
RS140872693 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Retinal macular dystrophy type 2
RS140872903 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS140873038 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS140873167 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS1408739927 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS140874089 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1408744761 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1408746819 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS140875148 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS140876382 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1408765134 TBCE Health Risk Pathogenic —
RS140876663 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS1408770467 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS140877474 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS140877566 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Malignant tumor of esophagus
RS1408778179 KDM5C Health Risk Likely pathogenic Spastic paraplegia, Thyroid cancer
RS140878220 INTU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, INTU-related disorder
RS140879454 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS1408798589 C5 Health Risk Pathogenic/Likely pathogenic Eculizumab, poor response to
RS140879997 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, Inborn genetic diseases
RS140880100 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS140880177 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS140880290 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS140880838 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS140881518 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS1408825410 KCNC3 Health Risk Likely pathogenic —
RS140882609 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS140882617 SLC4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive proximal renal tubular acidosis, Inborn genetic diseases
RS1408828737 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS140883211 FUS Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 6, Tremor
RS1408832954 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS140883683 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS1408840913 MMADHC Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1408845429 PCLO Health Risk Pathogenic —
RS140884776 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS140884994 CDH23 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive nonsyndromic hearing loss 12
RS1408863024 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS1408863821 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS1408863841 TTPA Health Risk Pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1408868952 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS140887831 NDUFS6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS140888559 APTX Health Risk Conflicting classifications of pathogenicity Ataxia, early-onset
RS1408886972 TBC1D32 Health Risk Pathogenic —
RS1408895107 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS140890046 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS140890215 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1408904076 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1408907127 COL4A4 Health Risk Pathogenic/Likely pathogenic Alport syndrome, Inborn genetic diseases
RS140891191 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Fanconi anemia complementation group J
RS140891877 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS140892948 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1408935815 PKDCC Health Risk Pathogenic —
RS1408935894 PKD1 Health Risk Likely pathogenic —
RS140894490 GCK Health Risk Conflicting classifications of pathogenicity Transient Neonatal Diabetes, Recessive
RS140894768 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS1408950500 DGUOK Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
RS140895713 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
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