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
RS1555475498 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555475519 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1555475529 STUB1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 48, Spinocerebellar ataxia 48
RS1555475794 STUB1 Health Risk Likely pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS1555475961 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS1555476935 CREBBP Health Risk Likely pathogenic —
RS1555478015 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1555478118 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1555478331 CREBBP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555478333 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1555478582 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1555478606 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1555478654 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1555479019 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS1555479227 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1555479341 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1555479351 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1555479423 MPI Health Risk Pathogenic/Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1555479441 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1555481030 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555482611 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS1555482745 GRIN2A Health Risk Likely pathogenic —
RS1555482761 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555483682 GRIN2A Health Risk Likely pathogenic —
RS1555483689 CREBBP Health Risk Pathogenic —
RS1555483699 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555483716 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555483728 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555483834 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555484797 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555485607 SYNM Health Risk Conflicting classifications of pathogenicity SYNM-related disorder, SYNM-related disorder
RS1555485987 SYNM Health Risk Conflicting classifications of pathogenicity SYNM-related disorder, SYNM-related disorder
RS1555485994 SYNM Health Risk Conflicting classifications of pathogenicity SYNM-related disorder, SYNM-related disorder
RS1555486021 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1555486560 GFER Health Risk Pathogenic Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
RS1555486629 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1555487316 UMOD Health Risk Pathogenic/Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1555487318 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1555487528 UMOD Health Risk Pathogenic Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder
RS1555487621 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1555487726 UMOD Health Risk Likely pathogenic —
RS1555487977 IFT140 Health Risk Pathogenic Retinitis pigmentosa 80, Retinitis pigmentosa 80
RS1555488069 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555488093 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555488094 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555488119 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, See cases
RS1555488124 GRIN2A Health Risk Likely pathogenic —
RS1555488144 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Self-limited epilepsy with centrotemporal spikes
RS1555488573 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555488653 SETD1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555489114 SCNN1B Health Risk Likely pathogenic —
RS1555490554 SCNN1B Health Risk Pathogenic —
RS1555491350 ROGDI Health Risk Pathogenic Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS1555491448 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1555491453 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555491538 GRIN2A Health Risk Pathogenic Inborn genetic diseases, See cases
RS1555491648 GRIN2A Health Risk Likely pathogenic Self-limited epilepsy with centrotemporal spikes, Landau-Kleffner syndrome
RS1555491654 GRIN2A Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Landau-Kleffner syndrome
RS1555492492 CHSY1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555492659 HSD3B7 Health Risk Pathogenic —
RS1555492758 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555492763 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555492766 GRIN2A Health Risk Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555492769 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555492790 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555492799 GRIN2A Health Risk Pathogenic —
RS1555492819 NTHL1 Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS1555492932 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1555493029 COG7 Health Risk Pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1555493585 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555493707 CNGB1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555493906 STX1B Health Risk Likely pathogenic —
RS1555494222 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS1555494259 STX1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555494322 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1555494671 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555494676 GRIN2A Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Self-limited epilepsy with centrotemporal spikes
RS1555494686 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555494699 GRIN2A Health Risk Pathogenic Neoplasm, Landau-Kleffner syndrome
RS1555494781 GRIN2A Health Risk Pathogenic —
RS1555495676 TSC2 Health Risk Pathogenic —
RS1555495692 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555495965 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1555496051 PPIB Health Risk Likely pathogenic —
RS1555496083 SLC5A2 Health Risk Pathogenic Familial renal glucosuria, Familial renal glucosuria
RS1555496111 GRIN2A Health Risk Pathogenic/Likely pathogenic Self-limited epilepsy with centrotemporal spikes, Landau-Kleffner syndrome
RS1555496202 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1555496560 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1555496581 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1555496732 CREBBP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555496968 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1555497029 COG4 Health Risk Pathogenic —
RS1555497542 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1555497568 COG7 Health Risk Pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1555497604 COG7 Health Risk Likely pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS1555497641 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555497690 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555497714 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1555497891 KATNIP Health Risk Pathogenic Joubert syndrome 26, Joubert syndrome 26
RS1555498092 USB1 Health Risk Pathogenic Poikiloderma with neutropenia, Poikiloderma with neutropenia
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