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
RS2067693064 FLNA Health Risk Pathogenic Frontometaphyseal dysplasia, Heterotopia
RS2067694046 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2067694467 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases
RS2067694639 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2067695073 ASXL3 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability
RS2067695956 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2067697776 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Intellectual disability
RS2067699201 RPS6KA3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2067700774 RPGR Health Risk Likely pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS2067702700 RPS6KA3 Health Risk Likely pathogenic Intellectual disability, X-linked 19
RS2067703001 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2067703753 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2067705734 ASXL3 Health Risk Likely pathogenic —
RS2067707522 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2067710234 SLC4A11 Health Risk Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS2067710654 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS2067713488 FLNA Health Risk Likely pathogenic Melnick-Needles syndrome, Heterotopia
RS2067715986 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2067717504 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2067717913 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2067723272 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2067723474 FLNA Health Risk Pathogenic Frontometaphyseal dysplasia, Heterotopia
RS2067739784 SLC4A11 Health Risk Likely pathogenic —
RS2067741257 FLNA Health Risk Pathogenic Frontometaphyseal dysplasia, Heterotopia
RS2067741671 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2067745159 FLNA Health Risk Conflicting classifications of pathogenicity Melnick-Needles syndrome, Heterotopia
RS2067760741 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Frontometaphyseal dysplasia
RS2067761169 FLNA Health Risk Conflicting classifications of pathogenicity FLNA-related disorder, Familial thoracic aortic aneurysm and aortic dissection
RS2067761804 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2067762985 FLNA Health Risk Likely pathogenic Melnick-Needles syndrome, Heterotopia
RS2067763458 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Heterotopia
RS2067763918 ASXL3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2067764827 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067765099 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067765257 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067765689 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067765761 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067765927 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067766404 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067766985 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067767535 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067769305 SLC4A11 Health Risk Likely pathogenic —
RS2067772652 FLNA Health Risk Pathogenic —
RS2067773664 SLC4A11 Health Risk Pathogenic —
RS2067773843 SLC4A11 Health Risk Pathogenic —
RS2067774568 FLNA Health Risk Likely pathogenic Cardiac valvular dysplasia, X-linked
RS2067802877 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2067818573 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2067822565 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, Thyroid cancer
RS2067832645 STK4 Health Risk Pathogenic Combined immunodeficiency due to STK4 deficiency, Combined immunodeficiency due to STK4 deficiency
RS2067844613 RPGR Health Risk Pathogenic RPGR-related retinopathy, Nonpapillary renal cell carcinoma
RS2067845149 RPGR Health Risk Pathogenic Retinitis pigmentosa, Thyroid cancer
RS2067847091 RPGR Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Primary ciliary dyskinesia
RS2067871973 SLC4A11 Health Risk Pathogenic/Likely pathogenic Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS2067873691 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2067875112 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067875732 EMD Health Risk Pathogenic —
RS2067876063 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2067877357 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067877633 RPGR Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2067878321 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS2067878443 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS2067883871 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2067885544 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS2067904283 HUWE1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2067907694 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS2067914706 SLC4A11 Health Risk Pathogenic —
RS2067953453 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2067963703 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2067964057 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS2067964335 HPS6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2067967771 HPS6 Health Risk Pathogenic —
RS2067971306 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS2067972248 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS2067974156 RPGR Health Risk Pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS2067975926 RPGR Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS2067976030 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2067976284 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067976665 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067980233 RPS6KA3 Health Risk Pathogenic —
RS2067985165 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS2067985696 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067985937 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2067987832 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa
RS2068001470 TTN Health Risk Likely pathogenic —
RS2068021128 SLC4A11 Health Risk Pathogenic —
RS2068034053 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2068036602 SDCCAG8 Health Risk Likely pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS2068036881 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2068038543 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2068041236 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2068042914 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Thyroid cancer
RS2068058963 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2068061224 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068070979 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS2068082287 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068084185 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068086975 ZC4H2 Health Risk Conflicting classifications of pathogenicity —
RS2068097992 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2068126366 COL4A5 Health Risk Pathogenic —
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