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
RS2067393549 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067393679 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067394045 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067399344 RPS6KA3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2067404808 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, RPGR-related retinopathy
RS2067406342 RPGR Health Risk Pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS2067408614 RPGR Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2067410562 RPGR Health Risk Pathogenic —
RS2067429826 DPH1 Health Risk Pathogenic Developmental delay with short stature, dysmorphic facial features
RS2067434779 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067434947 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Ovarian serous cystadenocarcinoma
RS2067440192 SBF1 Health Risk Pathogenic —
RS2067447633 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067448379 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067448565 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Primary ciliary dyskinesia
RS2067448681 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067448975 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067449346 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067449493 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067449536 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067449854 RPGR Health Risk Pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS2067449978 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067450400 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067450430 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067451355 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS2067451446 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067453631 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2067468999 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067475470 RPS6KA3 Health Risk Likely pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2067498051 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067498092 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Retinal dystrophy
RS2067506937 JAG1 Health Risk Pathogenic Tetralogy of Fallot, Tetralogy of Fallot
RS2067508256 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067513100 JAG1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Alagille syndrome due to a JAG1 point mutation
RS2067513720 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2067562201 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2067562961 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 6, Retinitis pigmentosa 6
RS2067565504 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS2067589435 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
RS2067592710 ASXL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2067594520 ASXL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2067595880 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
RS2067597172 FLNA Health Risk Likely pathogenic Melnick-Needles syndrome, Heterotopia
RS2067597244 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
RS2067597366 ASXL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2067598008 ASXL3 Health Risk Pathogenic —
RS2067600337 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
RS2067601254 ASXL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2067602034 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS2067603110 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
RS2067607089 ASXL3 Health Risk Pathogenic —
RS2067607133 ASXL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2067607599 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
RS2067614941 SYNE1 Health Risk Likely pathogenic —
RS2067616141 SLC4A11 Health Risk Pathogenic —
RS2067620152 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067620305 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067620512 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067621019 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067621208 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067621676 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067621912 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067623178 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067623782 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067623934 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067626336 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Heterotopia
RS2067631656 FLNA Health Risk Pathogenic —
RS2067635690 NF1 Health Risk Pathogenic —
RS2067635955 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067636699 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
RS2067637088 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2067638831 SLC4A11 Health Risk Likely pathogenic —
RS2067639563 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2067642748 ASXL3 Health Risk Pathogenic/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
RS2067643753 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
RS2067650699 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type I
RS2067654837 SLC4A11 Health Risk Likely pathogenic Congenital hereditary endothelial dystrophy of cornea, Corneal dystrophy
RS2067664000 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067664784 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067665969 NF1 Health Risk Pathogenic —
RS2067666266 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2067676221 SLC4A11 Health Risk Pathogenic —
RS2067676994 FLNA Health Risk Pathogenic/Likely pathogenic Cardiac valvular dysplasia, X-linked
RS2067677205 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS2067679229 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS2067679756 SLC4A11 Health Risk Pathogenic —
RS2067683151 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS2067687057 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS2067688143 SLC4A11 Health Risk Pathogenic —
RS2067688726 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
RS2067688959 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067689357 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067689582 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067690116 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2067690233 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067690686 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067691272 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS2067691394 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067691658 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2067692232 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
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