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
RS2548872276 HERC2 Health Risk Likely pathogenic —
RS2548883038 EML1 Health Risk Pathogenic —
RS2548884767 TCTN1 Health Risk Likely pathogenic TCTN1-related disorder, TCTN1-related disorder
RS2548891307 ORC6 Health Risk Pathogenic —
RS2548892306 ORC6 Health Risk Likely pathogenic Meier-Gorlin syndrome 3, Meier-Gorlin syndrome 3
RS25489 XRCC1 Health Risk association Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma
RS2548901390 FGF14 Health Risk Pathogenic Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A
RS2548901839 FGF14 Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia 27A, Spinocerebellar ataxia 27A
RS2548901989 TCTN1 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2548909825 KRAS Health Risk Pathogenic RASopathy, RASopathy
RS2548920482 KRAS Health Risk Likely pathogenic Vascular malformation, Vascular malformation
RS2548920539 KRAS Health Risk Likely pathogenic Cardiofaciocutaneous syndrome 2, Cardiofaciocutaneous syndrome 2
RS2548929536 TCTN1 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2548953788 GPT2 Health Risk Likely pathogenic Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
RS2548959757 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2548963125 GPT2 Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2548963176 GPT2 Health Risk Pathogenic Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
RS2548964393 KAT6B Health Risk Pathogenic —
RS2548982827 GPT2 Health Risk Likely pathogenic Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
RS2548985626 GPT2 Health Risk Likely pathogenic Glutamate pyruvate transaminase 2 deficiency, Glutamate pyruvate transaminase 2 deficiency
RS2548989725 GPT2 Health Risk Conflicting classifications of pathogenicity GPT2-related disorder, Inborn genetic diseases
RS2548990073 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2548992701 ADAMTS17 Health Risk Likely pathogenic ADAMTS17-related disorder, ADAMTS17-related disorder
RS2548993714 ADAMTS17 Health Risk Pathogenic —
RS2548994018 ADAMTS17 Health Risk Pathogenic —
RS2549019672 GDF2 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2549020220 GDF2 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS2549024674 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549024989 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549027602 RBP3 Health Risk Pathogenic —
RS2549027726 RBP3 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2549027953 RBP3 Health Risk Pathogenic —
RS2549028386 KAT6B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2549028408 RBP3 Health Risk Pathogenic/Likely pathogenic —
RS2549028615 RBP3 Health Risk Likely pathogenic Retinitis pigmentosa 66, Retinitis pigmentosa 66
RS2549028800 RBP3 Health Risk Pathogenic —
RS2549029243 RBP3 Health Risk Pathogenic —
RS2549036281 RAB11A Health Risk Pathogenic/Likely pathogenic —
RS2549037336 WNK1 Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2549038309 KCNMA1 Health Risk Likely pathogenic Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS2549039238 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2549049277 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2549049326 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2549049490 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2549068048 GPHN Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549068250 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549068917 HCN4 Health Risk Likely pathogenic Brugada syndrome 8, Brugada syndrome 8
RS2549071412 HCN4 Health Risk Likely pathogenic HCN4-related disorder, HCN4-related disorder
RS2549072961 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549078035 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549080472 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2549085900 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549085955 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549086213 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2549086402 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2549086417 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2549098724 HERC2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2549101895 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549101898 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549101903 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549101914 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549101925 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549101927 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549101930 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549101933 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549101952 ZEB2 Health Risk Pathogenic —
RS2549101955 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549101967 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549101973 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549102675 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549102815 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549104771 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549104776 ZEB2 Health Risk Pathogenic —
RS2549104779 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549104792 ZEB2 Health Risk Pathogenic ZEB2-related disorder, Mowat-Wilson syndrome
RS2549105623 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549105628 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Inborn genetic diseases
RS2549105695 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549105730 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549105756 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549105787 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549105793 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549105809 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549105837 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549105879 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549105946 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549105949 ZEB2 Health Risk Pathogenic —
RS2549105962 ZEB2 Health Risk Pathogenic —
RS2549106009 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106065 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106078 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106088 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106126 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106196 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106234 ZEB2 Health Risk Pathogenic —
RS2549106245 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106396 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106440 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106471 ZEB2 Health Risk Pathogenic —
RS2549106613 ZEB2 Health Risk Likely pathogenic ZEB2-related disorder, ZEB2-related disorder
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