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
RS2497023156 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497023441 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497023512 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497023568 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497023809 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497023982 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497024196 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497024345 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497025987 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497027852 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497028029 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497028505 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497028783 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497029498 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497029561 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497029597 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497029858 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497029871 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497030405 SERPINH1 Health Risk Pathogenic —
RS2497030890 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497030918 KMT2A Health Risk Pathogenic —
RS2497032074 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497032088 SLC37A4 Health Risk Conflicting classifications of pathogenicity Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497032578 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497032713 KMT2A Health Risk Pathogenic —
RS2497032747 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497033380 SLC37A4 Health Risk Pathogenic/Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497033417 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect
RS2497033470 SLC37A4 Health Risk Pathogenic Glucose-6-phosphate transport defect, Glycogen storage disease
RS2497033680 KMT2A Health Risk Conflicting classifications of pathogenicity Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497033999 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497034097 KMT2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2497038573 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497044244 MYO7A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2497044284 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497044471 MYO7A Health Risk Pathogenic —
RS2497044521 MYO7A Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2497047713 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497047845 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497048472 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497048802 PUS3 Health Risk Pathogenic —
RS2497049476 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497049567 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS2497053774 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497060336 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497060831 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497062538 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497062759 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497062839 KMT2A Health Risk Pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497062855 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497063106 DYNC2H1 Health Risk Likely pathogenic DYNC2H1-related disorder, DYNC2H1-related disorder
RS2497063317 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2497063654 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497066474 ALG8 Health Risk Likely pathogenic Polycystic liver disease 3 with or without kidney cysts, ALG8 congenital disorder of glycosylation
RS2497066643 BIRC3 Health Risk Likely pathogenic Regional enteritis, Regional enteritis
RS2497073190 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2497074414 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497078868 ESAM Health Risk Likely pathogenic Neurodevelopmental disorder with intracranial hemorrhage, seizures
RS2497078982 MYO7A Health Risk Pathogenic Auditory neuropathy, Auditory neuropathy
RS2497079021 MYO7A Health Risk Pathogenic —
RS2497079129 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497079231 ESAM Health Risk Likely pathogenic See cases, Neurodevelopmental disorder with intracranial hemorrhage
RS2497079486 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497079590 MYO7A Health Risk Likely pathogenic Usher syndrome, Usher syndrome
RS2497080009 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS2497082100 ESAM Health Risk Likely pathogenic See cases, Neurodevelopmental disorder with intracranial hemorrhage
RS2497083257 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS2497083502 GRIA4 Health Risk Likely pathogenic See cases, See cases
RS2497085175 ALG8 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2497086708 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497087696 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497088037 ESAM Health Risk Likely pathogenic Neurodevelopmental disorder with intracranial hemorrhage, seizures
RS2497089116 ANK2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2497089118 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497089724 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497097065 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497097522 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497097795 KMT2A Health Risk Pathogenic —
RS2497102338 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2497104208 KMT2A Health Risk Pathogenic —
RS2497104394 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497104441 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497105341 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497106492 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497106547 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497106696 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2497106753 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497107321 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2497110387 ALG9 Health Risk Likely pathogenic ALG9 congenital disorder of glycosylation, Gillessen-Kaesbach-Nishimura syndrome
RS2497111070 MEN1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497112470 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497112484 USH1C Health Risk Pathogenic —
RS2497112638 ALG8 Health Risk Likely pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS2497112808 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497112920 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497114146 ALG8 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, ALG8 congenital disorder of glycosylation
RS2497114826 ALG8 Health Risk Pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS2497121557 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2497123058 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497124189 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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