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
RS2230422 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Inborn genetic diseases
RS2230516 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 38, Retinitis pigmentosa
RS2230532 VRK1 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1A, Pontocerebellar hypoplasia type 1A
RS2230723 JAK2 Health Risk Conflicting classifications of pathogenicity —
RS2230852 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2230892 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS2230917 RRAS Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Noonan syndrome
RS2230939 F12 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, Factor XII deficiency disease
RS2231126 MYH7 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy
RS2231137 ABCG2 Health Risk Likely benign; Affects; association BLOOD GROUP, JUNIOR SYSTEM
RS2231487 ADA2 Health Risk Pathogenic Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS2231488 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Autoinflammatory syndrome
RS2231678 COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS2231682 COX15 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, COX15-related disorder
RS2231752 NECAP1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 21
RS2231756 POLR1C Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 3, POLR1C-related disorder
RS2232078 FERMT1 Health Risk Conflicting classifications of pathogenicity Kindler syndrome, Kindler syndrome
RS2232207 GPD1 Health Risk Conflicting classifications of pathogenicity GPD1-related disorder, GPD1-related disorder
RS2232367 FOXP3 Health Risk Conflicting classifications of pathogenicity Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS2232387 KRT75 Health Risk Benign; risk factor Pseudofolliculitis barbae, KRT75-related disorder
RS2232633 FLAD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2233061 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2233217 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Malignant tumor of urinary bladder
RS2233218 MOCS2 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
RS2233289 TNIP1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis
RS2233328 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS2233466 ALG3 Health Risk Conflicting classifications of pathogenicity ALG3-congenital disorder of glycosylation, ALG3-related disorder
RS2233583 PAX4 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 9, Type 2 diabetes mellitus
RS2233783 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS2233787 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS2233846 RFX5 Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency 1
RS2234036 SERPINA7 Health Risk Conflicting classifications of pathogenicity Thyroxine-binding globulin, variant A
RS2234252 TREM2 Health Risk Conflicting classifications of pathogenicity TREM2-related disorder, Uterine corpus endometrial carcinoma
RS2234333 TUBA8 Health Risk Conflicting classifications of pathogenicity —
RS2234473 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS2234581 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Drash syndrome
RS2234584 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS2234663 IL1RN Health Risk Pathogenic; risk factor Gastric cancer susceptibility after h. pylori infection, Microvascular complications of diabetes
RS2234675 PAX3 Health Risk Conflicting classifications of pathogenicity Congenital diaphragmatic hernia, Waardenburg syndrome
RS2234693 ESR1 Health Risk risk factor Myocardial infarction, susceptibility to
RS2234704 CRYAB Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 2, Fatal infantile hypertonic myofibrillar myopathy
RS2234916 KCNE2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, drug-associated
RS2234917 PKD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease 2
RS2234933 CTF1 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS2234936 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS2234939 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS2234980 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2234998 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2235002 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2235006 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2235011 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2235245 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS2235250 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS2235926 PADI2 Health Risk association Rheumatoid arthritis, Abnormal pulmonary interstitial morphology
RS2236379 PRKCQ Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 1, Inflammatory bowel disease 1
RS2236453 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, Inborn genetic diseases
RS2239671 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1-related disorder
RS2239704 LTA Health Risk risk factor Leprosy, early-onset
RS2240340 PADI4 Health Risk association Rheumatoid arthritis, Rheumatoid arthritis
RS2241116 IL18R1 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS2241132 IL1RL2 Health Risk association Ascending aortic dissection, Ascending aortic dissection
RS2242074 CRYGD Health Risk Likely pathogenic —
RS224224 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS2242519 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS2245425 TOR1AIP1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS2255183 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS2269219 FECH Health Risk Conflicting classifications of pathogenicity Protoporphyria, erythropoietic
RS2269577 XBP1 Health Risk risk factor -, -
RS2271305 DDR2 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, Connective tissue disorder
RS2272070 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS2272457 CHD2 Health Risk Pathogenic —
RS2272620 RAB2A Health Risk association Vascular endothelial growth factor (VEGF) inhibitor response, Vascular endothelial growth factor (VEGF) inhibitor response
RS2272707 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS2272783 FECH Health Risk Conflicting classifications of pathogenicity Protoporphyria, erythropoietic
RS2273411 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS2273439 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS2274266 COA8 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 17
RS2274386 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2274689 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2274700 CFH Health Risk risk factor Age related macular degeneration 4, Age related macular degeneration 4
RS2275152 IFT80 Health Risk Likely pathogenic Jeune thoracic dystrophy, Familial cancer of breast
RS2275182 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS2275402 EMC1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS2275533 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS2275601 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Greenberg dysplasia
RS2275602 MUTYH;TOE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2276137 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
RS2276263 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2276278 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Usher syndrome type 1
RS2276382 TTR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Amyloidosis
RS2276459 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS2276631 SLC11A1 Health Risk risk factor Mycobacterium tuberculosis, susceptibility to infection by
RS2276742 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, Connective tissue disorder
RS2277202 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS2277447 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS2277596 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS2280789 CCL5 Health Risk Pathogenic Human immunodeficiency virus type 1, rapid disease progression with infection by
RS2282440 SDC3 Health Risk association Obesity, association with
RS2282983 CDK6 Health Risk association Behcet disease, Behcet disease
RS2285676 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 13, Hyperinsulinemic hypoglycemia
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