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
RS2511282703 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511283040 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511283263 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511283295 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511283868 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511283953 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511284054 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511284582 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511284626 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511288024 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C
RS2511288288 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511288528 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511288653 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511290957 LAMA3 Health Risk Likely pathogenic —
RS2511301336 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
RS2511301664 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511302158 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511302653 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511302764 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511302777 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511302863 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511302955 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511303175 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511303393 MYO5B Health Risk Likely pathogenic —
RS2511303464 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511303827 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511308216 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511308451 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511309193 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511309222 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511309549 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511309763 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511319039 MYO5B Health Risk Pathogenic/Likely pathogenic —
RS2511324962 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS2511326359 SMAD2 Health Risk Pathogenic Loeys-Dietz syndrome 6, Loeys-Dietz syndrome 6
RS2511329815 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511332481 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511332601 SETBP1 Health Risk Pathogenic —
RS2511333063 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2511333108 SETBP1 Health Risk Pathogenic —
RS2511333129 SETBP1 Health Risk Pathogenic —
RS2511333154 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS2511333460 SETBP1 Health Risk Pathogenic —
RS2511333495 SETBP1 Health Risk Likely pathogenic —
RS2511333961 SETBP1 Health Risk Pathogenic —
RS2511334156 SETBP1 Health Risk Pathogenic —
RS2511335336 LOXHD1 Health Risk Pathogenic —
RS2511335695 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511340604 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511340832 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511340936 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511340972 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511341044 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511341154 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511341214 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511341408 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511341428 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511341561 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511349735 SMAD2 Health Risk Pathogenic Congenital heart defects, multiple types
RS2511351266 SMAD2 Health Risk Likely pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS2511352133 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511352190 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C
RS2511352293 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511352938 GREB1L Health Risk Pathogenic —
RS2511356075 LAMA3 Health Risk Likely pathogenic —
RS2511357416 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511357450 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS2511358068 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511358085 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2511358161 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2511358187 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2511364809 GREB1L Health Risk Likely pathogenic Renal hypodysplasia/aplasia 3, Renal hypodysplasia/aplasia 3
RS2511365219 LOXHD1 Health Risk Pathogenic —
RS2511365308 LOXHD1 Health Risk Likely pathogenic —
RS2511365317 LOXHD1 Health Risk Likely pathogenic —
RS2511367483 SMAD4 Health Risk Likely pathogenic Myhre syndrome, Myhre syndrome
RS2511367679 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511367798 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511367949 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511368694 SETBP1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 29
RS2511369220 DCC Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2511369243 DCC Health Risk Likely pathogenic Mirror movements 1, Mirror movements 1
RS2511369276 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511369340 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511369450 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511369501 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511369505 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511369609 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511369618 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511369654 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2511369682 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2511374242 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2511374276 LOXHD1 Health Risk Pathogenic —
RS2511374326 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511374416 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511374491 LOXHD1 Health Risk Pathogenic —
RS2511374597 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2511374611 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511374618 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2511374701 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
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