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
RS2549182925 KAT6B Health Risk Pathogenic KAT6B-related disorder, KAT6B-related disorder
RS2549184163 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2549184173 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2549189964 SMARCC1 Health Risk Likely pathogenic Hydrocephalus, congenital
RS2549193603 LINS1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 27
RS2549196742 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2549197648 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2549197942 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2549198858 KAT6B Health Risk Pathogenic/Likely pathogenic Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS2549199460 KAT6B Health Risk Pathogenic KAT6B-related disorder, KAT6B-related disorder
RS2549200429 MECOM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2549202399 KAT6B Health Risk Pathogenic KAT6B-related disorder, KAT6B-related disorder
RS2549203895 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS2549207711 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2549208798 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2549212884 USP7 Health Risk Pathogenic Hao-Fountain syndrome due to USP7 mutation, Gastric cancer
RS2549213434 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2549214778 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2549220874 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome due to USP7 mutation, Hao-Fountain syndrome due to USP7 mutation
RS2549222611 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549223409 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549225175 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549226325 USP7 Health Risk Pathogenic —
RS2549226398 USP7 Health Risk Pathogenic —
RS2549226442 USP7;USP7-AS1 Health Risk Pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549229217 USP7 Health Risk Pathogenic Hao-Fountain syndrome due to USP7 mutation, Hao-Fountain syndrome due to USP7 mutation
RS2549230941 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549232757 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549240624 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549240827 USP7 Health Risk Likely pathogenic —
RS2549241840 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549242502 USP7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2549242516 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549242612 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, USP7-related disorder
RS2549243181 DHX30 Health Risk Likely pathogenic —
RS2549244890 USP7 Health Risk Likely pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549244919 USP7 Health Risk Pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549246727 USP7 Health Risk Likely pathogenic Inborn genetic diseases, Neoplasm
RS2549250330 USP7 Health Risk Pathogenic Hao-Fountain syndrome, Hao-Fountain syndrome
RS2549255659 SYNE2 Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS2549268527 NBEA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2549268925 MECOM Health Risk Pathogenic MECOM-associated syndrome, MECOM-associated syndrome
RS2549269042 MECOM Health Risk Likely pathogenic —
RS2549269204 MECOM Health Risk Likely pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS2549284450 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
RS2549285187 DOCK3 Health Risk Likely pathogenic DOCK3-related disorder, DOCK3-related disorder
RS2549295022 DHX30 Health Risk Pathogenic Autism, susceptiblity to
RS2549297131 DHX30 Health Risk Likely pathogenic —
RS2549301563 DHX30 Health Risk Likely pathogenic See cases, See cases
RS2549306131 WARS1 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly and speech delay, with or without brain abnormalities
RS2549307285 DHX30 Health Risk Likely pathogenic —
RS2549312956 THUMPD1 Health Risk Pathogenic Neurodevelopmental disorder with speech delay and variable ocular anomalies, Neurodevelopmental disorder with speech delay and variable ocular anomalies
RS2549321348 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2549378092 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2549384286 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2549416400 SYNE2 Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS2549467189 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2549468222 SPTBN1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2549494030 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2549499057 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2549499286 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
RS2549502583 SPTBN1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2549506201 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2549506563 SPTBN1 Health Risk Likely pathogenic —
RS2549511876 SPTBN1 Health Risk Pathogenic Developmental delay, impaired speech
RS2549520186 SPTBN1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2549520266 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2549524360 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2549525393 SPTBN1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2549525926 SPTBN1 Health Risk Likely pathogenic —
RS2549530685 SPTBN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2549543024 SPTBN1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2549545213 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2549545421 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2549545616 PCDH15 Health Risk Likely pathogenic PCDH15-related disorder, PCDH15-related disorder
RS2549545673 PCDH15 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2549545770 PCDH15 Health Risk Pathogenic —
RS2549551292 SPTBN1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2549554387 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2549554737 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2549555343 SPTBN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2549555672 SPTBN1 Health Risk Likely pathogenic —
RS2549560021 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2549562759 SPTBN1 Health Risk Pathogenic Developmental delay, impaired speech
RS2549570027 SPTBN1 Health Risk Pathogenic Developmental delay, impaired speech
RS2549575000 SPTBN1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS2549575262 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2549594379 MAB21L1 Health Risk Pathogenic —
RS2549597698 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549615253 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
RS2549615369 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549615601 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549619648 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549619766 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2549629250 ST3GAL3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Early-infantile DEE
RS2549631880 RALGAPA1 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency
RS2549714620 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2549719217 ATP6V1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy 93, Autosomal recessive cutis laxa type 2D
RS2549720448 ATP6V1A Health Risk Likely pathogenic —
RS2549722082 ATP6V1A Health Risk Pathogenic —
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