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
RS2107670401 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670410 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670416 GATA2 Health Risk Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670420 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2107670425 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670463 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670467 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670484 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107670492 GATA2 Health Risk Pathogenic —
RS2107670544 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107671906 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2107671923 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107671950 COL7A1 Health Risk Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107671960 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, COL7A1-related disorder
RS2107671965 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672019 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2107672055 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672102 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672112 COL7A1 Health Risk Pathogenic —
RS2107672153 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672186 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672252 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672306 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672309 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672336 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672419 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672568 GATA2 Health Risk Pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS2107672654 GATA2 Health Risk Pathogenic Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS2107672698 COL7A1 Health Risk Pathogenic/Likely pathogenic Transient bullous dermolysis of the newborn, Transient bullous dermolysis of the newborn
RS2107672703 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672708 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672730 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672732 COL7A1 Health Risk Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107672756 COL7A1 Health Risk Pathogenic —
RS2107672777 COL7A1 Health Risk Pathogenic —
RS2107672783 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672788 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672816 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107672844 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672847 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672869 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672881 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672888 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672963 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107672967 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107673392 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107673397 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107673501 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107673544 GATA2 Health Risk Pathogenic GATA2 deficiency with susceptibility to MDS/AML, Deafness-lymphedema-leukemia syndrome
RS2107673633 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107673689 GATA2 Health Risk Pathogenic/Likely pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107673777 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2107673815 COL7A1 Health Risk Pathogenic —
RS2107674135 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107674146 SETD2 Health Risk Likely pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2107674192 COL7A1 Health Risk Pathogenic/Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107674323 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107674627 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107674698 COL7A1 Health Risk Pathogenic —
RS2107674937 COL7A1 Health Risk Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, Transient bullous dermolysis of the newborn
RS2107675021 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107675136 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107675162 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107679315 COL7A1 Health Risk Likely pathogenic —
RS2107680218 COL7A1 Health Risk Pathogenic —
RS2107680342 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa pruriginosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107680443 COL7A1 Health Risk Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107682223 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107682264 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa pruriginosa, Recessive dystrophic epidermolysis bullosa
RS2107683470 COL7A1 Health Risk Likely pathogenic —
RS2107690909 COL7A1 Health Risk Likely pathogenic —
RS2107691045 COL7A1 Health Risk Pathogenic —
RS2107692123 COL7A1 Health Risk Pathogenic —
RS2107694864 COL7A1 Health Risk Pathogenic —
RS2107696360 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Neoplasm
RS2107697174 COL7A1 Health Risk Pathogenic/Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, COL7A1-related disorder
RS2107697936 COL7A1 Health Risk Likely pathogenic —
RS2107698224 COL7A1 Health Risk Pathogenic —
RS2107698800 COL7A1 Health Risk Pathogenic —
RS2107698884 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107699672 COL7A1 Health Risk Pathogenic —
RS2107702819 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107703081 COL7A1 Health Risk Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107706848 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107706875 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107710536 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS2107711734 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107712587 COL7A1 Health Risk Pathogenic —
RS2107713521 PTPN23 Health Risk Likely pathogenic Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS2107714011 COL7A1 Health Risk Likely pathogenic —
RS2107714139 COL7A1 Health Risk Pathogenic —
RS2107715075 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS2107717354 PTPN23 Health Risk Pathogenic/Likely pathogenic —
RS2107717630 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107717803 COL7A1 Health Risk Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107717836 COL7A1 Health Risk Likely pathogenic —
RS2107718927 COL7A1 Health Risk Pathogenic COL7A1-related disorder, COL7A1-related disorder
RS2107720258 PTPN23 Health Risk Likely pathogenic —
RS2107722847 COL7A1 Health Risk Pathogenic —
RS2107725917 COL7A1 Health Risk Likely pathogenic —
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