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
RS1801138 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS1801145 PAH Health Risk Conflicting classifications of pathogenicity Phenylketonuria, Inborn genetic diseases
RS1801147 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1801152 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1801155 APC Health Risk Conflicting classifications of pathogenicity; association; risk factor Breast cancer, susceptibility to
RS1801161 RS1 Health Risk Pathogenic —
RS1801170310 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801175 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease
RS1801175648 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801176 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
RS1801178 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1801182500 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 1, Long QT syndrome 2
RS1801183 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1801183828 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS1801206 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1801208 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1801214 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS1801214475 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS1801232040 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801243 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS1801248 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases
RS1801253 ADRB1 Health Risk Benign; association Pulmonary disease, chronic obstructive
RS1801256 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1801265 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, fluorouracil response - Toxicity
RS1801269 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS1801297484 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1801309834 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1801327 BEST1;FTH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Hemochromatosis type 5
RS1801328287 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801377 FANCI;POLG Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group I, POLG-related disorder
RS1801395870 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS1801396588 CNTNAP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1801406108 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801409660 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801410644 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome 2
RS1801437299 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801442718 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801444435 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801449253 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801462423 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1801466 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS1801505 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1801519418 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801522729 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801528197 WRN Health Risk Likely pathogenic —
RS1801530173 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801545 KCNQ2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1801581 ABCA4 Health Risk Conflicting classifications of pathogenicity MACULAR DEGENERATION, AGE-RELATED
RS1801591463 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1801599945 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1801600694 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1801626 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS1801672516 CLN8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS1801673 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1801677859 CASP2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1801678807 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS1801681007 CLN8 Health Risk Likely pathogenic Seizure, Seizure
RS1801695 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1801696 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1801697 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1801698 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1801700 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1801703 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1801710 EDNRB Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS1801755635 CSNK2B Health Risk Pathogenic/Likely pathogenic Poirier-Bienvenu neurodevelopmental syndrome, Poirier-Bienvenu neurodevelopmental syndrome
RS1801761541 CSNK2B Health Risk Likely pathogenic Inborn genetic diseases, Poirier-Bienvenu neurodevelopmental syndrome
RS180177032 BRAF Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS180177033 BRAF Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS180177034 BRAF Health Risk Pathogenic Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome
RS180177035 BRAF Health Risk Pathogenic Cardiofaciocutaneous syndrome 1, RASopathy
RS180177036 BRAF Health Risk Pathogenic Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome
RS180177037 BRAF Health Risk Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 1, RASopathy
RS180177038 BRAF Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 1, RASopathy
RS180177039 BRAF Health Risk Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome
RS180177040 BRAF Health Risk Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome
RS180177041 BRAF Health Risk Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 1, Cardio-facio-cutaneous syndrome
RS180177042 BRAF Health Risk Pathogenic Cardiofaciocutaneous syndrome 1, Inborn genetic diseases
RS180177083 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177084 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177085 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177086 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177090 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177091 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177092 PALB2 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group N
RS180177094 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS180177095 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177097 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS180177098 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS180177099 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177100 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS180177102 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177103 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177110 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS180177111 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177112 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177113 PALB2 Health Risk Pathogenic Fanconi anemia complementation group N, Fanconi anemia complementation group N
RS180177115 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177116 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS180177122 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS180177123 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
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