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
RS2510926754 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
RS2510928216 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
RS2510928397 ASXL3 Health Risk Pathogenic/Likely pathogenic Autism spectrum disorder, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2510928763 ASXL3 Health Risk Pathogenic —
RS2510929049 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
RS2510929569 ASXL3 Health Risk Likely pathogenic —
RS2510929819 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
RS2510930101 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
RS2510930388 SGSH Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510930697 SGSH Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-A
RS2510931646 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
RS2510932394 TTR Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Amyloidosis
RS2510932395 TTR Health Risk Conflicting classifications of pathogenicity Amyloidosis, hereditary systemic 1
RS2510933010 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS2510935444 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
RS2510937680 DSC2 Health Risk Conflicting classifications of pathogenicity Familial isolated arrhythmogenic right ventricular dysplasia, Familial isolated arrhythmogenic right ventricular dysplasia
RS2510937684 TBCD Health Risk Likely pathogenic —
RS2510937784 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS2510938096 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510938201 DSC2 Health Risk Likely pathogenic —
RS2510939437 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510940628 TBCD Health Risk Likely pathogenic —
RS2510940630 DSC2 Health Risk Conflicting classifications of pathogenicity Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 11
RS2510942619 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510943436 KCTD1 Health Risk Likely pathogenic Scalp-ear-nipple syndrome, Scalp-ear-nipple syndrome
RS2510946837 DSC2 Health Risk Likely pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510948012 GREB1L Health Risk Pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS2510948219 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510948314 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510948963 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510951125 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS2510951173 ABCC6 Health Risk Pathogenic —
RS2510951321 DSC2 Health Risk Likely pathogenic —
RS2510951682 ABCC6 Health Risk Pathogenic —
RS2510951779 ABCC6 Health Risk Likely pathogenic —
RS2510952363 DSC2 Health Risk Conflicting classifications of pathogenicity Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 11
RS2510952501 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS2510952587 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS2510953750 DSC2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS2510953759 DSC2 Health Risk Pathogenic —
RS2510953787 DSC2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2510954942 DSC2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2510955454 ABCC6 Health Risk Pathogenic —
RS2510955933 DSC2 Health Risk Likely pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS2510956114 DSC2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2510960594 ABCC6 Health Risk Likely pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS2510963347 ABCC6 Health Risk Pathogenic —
RS2510966451 MOCOS Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS2510966747 ABCC6 Health Risk Pathogenic —
RS2510968407 MOCOS Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS2510982999 ABCC6 Health Risk Pathogenic Autosomal recessive inherited pseudoxanthoma elasticum, Autosomal recessive inherited pseudoxanthoma elasticum
RS2510983262 MOCOS Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS2510984845 MOCOS Health Risk Likely pathogenic Xanthinuria type II, MOCOS-related disorder
RS2510984970 MOCOS Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS2510991598 ABCC6 Health Risk Pathogenic —
RS2510994528 ABCC6 Health Risk Pathogenic —
RS2510999732 PIEZO2 Health Risk Likely pathogenic PIEZO2-related disorder, PIEZO2-related disorder
RS2511000590 PIEZO2 Health Risk Likely pathogenic Gordon syndrome, Gordon syndrome
RS2511002358 ABCC6 Health Risk Pathogenic —
RS2511036319 ABCC6 Health Risk Pathogenic —
RS2511036370 ABCC6 Health Risk Pathogenic/Likely pathogenic Pseudoxanthoma elasticum, forme fruste
RS2511036422 ABCC6 Health Risk Pathogenic —
RS2511042832 DSG1 Health Risk Pathogenic —
RS2511043841 DSG1 Health Risk Pathogenic —
RS2511043894 DSG1 Health Risk Pathogenic DSG1-related disorder, DSG1-related disorder
RS2511043976 DSG1 Health Risk Pathogenic —
RS2511045840 DSG1 Health Risk Pathogenic —
RS2511047532 DSG1 Health Risk Pathogenic —
RS2511049674 ABCC6 Health Risk Pathogenic ABCC6-related disorder, ABCC6-related disorder
RS2511074603 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
RS2511081455 COG1 Health Risk Pathogenic COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS2511101927 STRADA Health Risk Likely pathogenic Polyhydramnios, megalencephaly
RS2511132510 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
RS2511176123 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511176179 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511176526 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511176814 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511176956 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511183145 NPC1 Health Risk Likely pathogenic —
RS2511183411 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS2511183420 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511183558 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511183757 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511184148 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511184214 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511184326 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511189114 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511189739 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511190372 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511190471 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511191252 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511191286 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511191312 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511191394 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511196440 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511196532 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511196908 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511196937 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511197050 NPC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NPC1-related disorder
RS2511197105 STRADA Health Risk Pathogenic Polyhydramnios, megalencephaly
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