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
RS1559585778 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559586168 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1559586374 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1559586695 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559586782 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1559586965 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1559587104 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559587112 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1559587902 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559587957 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559588330 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1559588540 MLH1 Health Risk Likely pathogenic Colorectal cancer, hereditary nonpolyposis
RS1559588632 BAP1 Health Risk Pathogenic Uveal melanoma, Uveal melanoma
RS1559588683 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559589139 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559589252 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1559589344 BAP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1559589809 BAP1 Health Risk Pathogenic/Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1559590037 COL4A4 Health Risk Pathogenic —
RS1559590603 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559590613 BAP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559590789 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559590832 TMEM237 Health Risk Pathogenic —
RS1559591264 BAP1 Health Risk Pathogenic Neurodevelopmental disorder, Neoplasm
RS1559591314 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1559591511 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1559591546 MLH1 Health Risk Conflicting classifications of pathogenicity Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1559591695 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS1559591728 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1559592415 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559592875 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559592900 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1559593101 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1559593177 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1559593339 BAP1 Health Risk Likely pathogenic BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1559593389 BAP1 Health Risk Pathogenic BAP1-related tumor predisposition syndrome, BAP1-related tumor predisposition syndrome
RS1559594442 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS1559595807 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1559595840 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1559596230 FOXP1 Health Risk Likely pathogenic —
RS1559596699 FOXP1 Health Risk Likely pathogenic —
RS1559596756 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1559597322 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1559597540 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1559598775 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559599859 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559600608 BTD Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
RS1559600871 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1559600938 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1559601041 BTD Health Risk Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1559602356 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability
RS1559602593 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1559602980 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559603328 ITPR1 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia type 29, Spinocerebellar ataxia type 15/16
RS1559603629 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS1559604072 FN1 Health Risk Pathogenic Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia
RS1559604548 EOGT Health Risk Likely pathogenic Adams-Oliver syndrome 4, Adams-Oliver syndrome 4
RS1559606445 COL4A4 Health Risk Pathogenic Autosomal dominant Alport syndrome, Alport syndrome
RS1559609410 FN1 Health Risk Likely pathogenic Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia
RS1559614110 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1559614642 TTN Health Risk Likely pathogenic —
RS1559614730 POU1F1 Health Risk Likely pathogenic Pituitary hormone deficiency, combined
RS1559616744 FN1 Health Risk Likely pathogenic Spondylometaphyseal dysplasia, Spondylometaphyseal dysplasia
RS1559616778 FOXP1 Health Risk Pathogenic —
RS1559617016 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1559617617 COL4A4 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS1559619762 FOXP1 Health Risk Pathogenic Intellectual disability, Autism
RS1559620132 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1559620376 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1559621862 FOXP1 Health Risk Likely pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Squamous cell lung carcinoma
RS1559622431 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1559622516 SLC6A1 Health Risk Pathogenic/Likely pathogenic Epilepsy with myoclonic atonic seizures, SLC6A1-related disorder
RS1559623389 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1559626646 SLC6A1 Health Risk Likely pathogenic —
RS1559628183 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1559629701 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1559629912 PRKCD Health Risk Pathogenic Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD
RS1559630167 SLC6A1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Epilepsy with myoclonic atonic seizures
RS1559631986 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS1559633512 SLC6A1 Health Risk Likely pathogenic —
RS1559634490 SETD2 Health Risk Pathogenic —
RS1559637815 GBE1 Health Risk Pathogenic Glycogen storage disease, type IV
RS1559638068 ITPR1 Health Risk Pathogenic Gillespie syndrome, Gillespie syndrome
RS1559639240 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1559640454 SLC6A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1559642470 IMPG2 Health Risk Likely pathogenic Vitelliform macular dystrophy 5, Vitelliform macular dystrophy 5
RS1559643320 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1559643753 COL4A4 Health Risk Likely pathogenic Benign familial hematuria, Benign familial hematuria
RS1559644463 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1559646395 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Benign familial hematuria
RS1559650552 FOXP1 Health Risk Pathogenic Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS1559654264 CAV3 Health Risk Likely pathogenic Rippling muscle disease 2, Rippling muscle disease 2
RS1559655653 ACVR2B Health Risk Likely pathogenic Heterotaxy, visceral
RS1559662068 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS1559662077 BRPF1 Health Risk Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS1559663225 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559669161 TTN Health Risk Likely pathogenic See cases, See cases
RS1559669986 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559671858 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1559673456 GBE1 Health Risk Pathogenic Glycogen storage disease IV, classic hepatic
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