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
RS1567260747 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS1567261757 PHKG2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS1567261889 PHKG2 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS1567262537 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1567262640 SCNN1G Health Risk Pathogenic Pseudohypoaldosteronism, type IB3
RS1567262786 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1567263114 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS1567263168 CREBBP Health Risk Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome, Inborn genetic diseases
RS1567263375 CLCN7 Health Risk Pathogenic Autosomal recessive osteopetrosis 4, Autosomal recessive osteopetrosis 4
RS1567263529 CREBBP Health Risk Likely pathogenic Menke-Hennekam syndrome 1, Menke-Hennekam syndrome 1
RS1567263724 CREBBP Health Risk Conflicting classifications of pathogenicity —
RS1567265093 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1567265131 CREBBP Health Risk Pathogenic Menke-Hennekam syndrome 1, Menke-Hennekam syndrome 1
RS1567265203 CREBBP Health Risk Pathogenic Menke-Hennekam syndrome 1, Menke-Hennekam syndrome 1
RS1567268668 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1567268682 MPI Health Risk Pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1567269045 AP4E1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1567269316 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1567269757 MPI Health Risk Likely pathogenic MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS1567269945 CREBBP Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1567270052 LMF1 Health Risk Pathogenic —
RS1567270184 SCNN1G Health Risk Pathogenic Liddle syndrome 2, Liddle syndrome 2
RS1567276741 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1567277287 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1567280099 ANKS3 Health Risk Pathogenic Short stature, Short stature
RS1567282497 GRIN2A Health Risk Pathogenic Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1567282634 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome
RS1567283195 STUB1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 16, Autosomal recessive spinocerebellar ataxia 16
RS1567287477 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1567287990 RPS15A Health Risk Pathogenic Diamond-Blackfan anemia 20, Diamond-Blackfan anemia 20
RS1567294240 MEIS2 Health Risk Pathogenic —
RS1567295184 HEXA Health Risk Pathogenic/Likely pathogenic Tay-Sachs disease, HEXA-related disorder
RS1567297439 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1567300736 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1567300982 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 2, Desbuquois dysplasia 2
RS1567306142 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS1567309482 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1567309582 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1567309813 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1567309965 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1567310019 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1567310155 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder
RS1567310537 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1567311211 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS1567311279 UMOD Health Risk Likely pathogenic —
RS1567311288 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1567312671 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS1567314296 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Inborn genetic diseases
RS1567314662 TECPR2 Health Risk Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1567316325 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS1567316655 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1567318022 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1567327347 IFT140 Health Risk Pathogenic/Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1567327482 TECPR2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia
RS1567328510 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1567329011 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS1567330535 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, IFT140-related disorder
RS1567331335 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS1567331357 CREBBP Health Risk Pathogenic —
RS1567335355 ABCA3 Health Risk Pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS1567337914 GRIN2A Health Risk Likely pathogenic Self-limited epilepsy with centrotemporal spikes, Landau-Kleffner syndrome
RS1567341422 SIN3A Health Risk Pathogenic —
RS1567342899 TBX6 Health Risk Pathogenic Spondylocostal dysostosis 5, Spondylocostal dysostosis 5
RS1567353425 SETD1A Health Risk Likely pathogenic —
RS1567353500 SETD1A Health Risk Likely pathogenic SETD1A-related disorder, SETD1A-related disorder
RS1567360969 CNGB1 Health Risk Pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS1567368243 SIN3A Health Risk Pathogenic SIN3A-related intellectual disability syndrome due to a point mutation, SIN3A-related intellectual disability syndrome due to a point mutation
RS1567369247 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS1567369975 NTHL1 Health Risk Pathogenic Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome
RS1567370223 CNGB1 Health Risk Pathogenic —
RS1567370784 HSD3B7 Health Risk Pathogenic —
RS1567371518 HSD3B7 Health Risk Pathogenic —
RS1567373723 OTOA Health Risk Pathogenic —
RS1567378099 STX1B Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS1567378779 MMP2 Health Risk Pathogenic Multicentric osteolysis, nodulosis
RS1567379016 PRRT2 Health Risk Likely pathogenic Seizures, benign familial infantile
RS1567379470 STX1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1567379671 STX1B Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 9
RS1567379819 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1567380076 PRRT2 Health Risk Pathogenic Infantile convulsions and choreoathetosis, Infantile convulsions and choreoathetosis
RS1567380135 PRRT2 Health Risk Likely pathogenic Episodic kinesigenic dyskinesia, Episodic kinesigenic dyskinesia
RS1567380772 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567381218 OTOA Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS1567386034 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1567386464 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS1567386603 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567387207 TSC2 Health Risk Pathogenic/Likely pathogenic Lymphangiomyomatosis, Isolated focal cortical dysplasia type II
RS1567390809 LPCAT2 Health Risk Pathogenic Multicentric osteolysis nodulosis arthropathy spectrum, Multicentric osteolysis nodulosis arthropathy spectrum
RS1567394860 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567395826 TSC2 Health Risk Pathogenic —
RS1567396193 CNOT1 Health Risk Conflicting classifications of pathogenicity Vissers-Bodmer syndrome, Vissers-Bodmer syndrome
RS1567396832 OTOA Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 22
RS1567398983 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567403619 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1567404609 CLDN9 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Hearing loss
RS1567407044 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS1567408314 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567408727 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567409292 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567411053 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
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