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
RS193922123 AVPR2 Health Risk Likely pathogenic Nephrogenic diabetes insipidus, Nephrogenic diabetes insipidus
RS193922124 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS193922125 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS193922126 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia
RS193922128 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS193922129 BTK Health Risk Pathogenic/Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS193922131 BTK Health Risk Likely pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS193922132 BTK Health Risk Pathogenic X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS193922133 BTK Health Risk Conflicting classifications of pathogenicity X-linked agammaglobulinemia, X-linked agammaglobulinemia with growth hormone deficiency
RS193922134 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS193922135 CD40LG Health Risk Pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS193922136 CD40LG Health Risk Likely pathogenic Hyper-IgM syndrome type 1, Hyper-IgM syndrome type 1
RS193922137 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS193922138 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS193922139 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922140 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS193922141 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS193922142 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922143 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922144 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922145 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS193922147 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922148 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS193922149 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922150 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922151 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922152 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS193922153 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Familial thoracic aortic aneurysm and aortic dissection
RS193922154 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta with normal sclerae
RS193922155 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922157 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922158 COL1A1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922159 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS193922162 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS193922165 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922166 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS193922167 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS193922168 COL1A2 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922173 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS193922175 COL1A2 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS193922176 COL3A1 Health Risk Pathogenic Familial aortopathy, Ehlers-Danlos syndrome
RS193922179 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922181 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922182 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922183 FBN1 Health Risk Pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Familial thoracic aortic aneurysm and aortic dissection
RS193922185 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922186 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922187 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922188 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922191 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922193 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Marfan syndrome
RS193922194 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922197 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922198 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922199 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922200 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922203 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922204 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922205 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Acute aortic dissection
RS193922206 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922207 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Acromicric dysplasia
RS193922209 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922211 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922212 FBN1 Health Risk Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS193922214 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922215 FBN1 Health Risk Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS193922216 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922217 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922218 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Marfan syndrome
RS193922219 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS193922220 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922221 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS193922223 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922224 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922225 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922226 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922227 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922228 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, 8 conditions
RS193922230 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922233 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922234 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922235 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922236 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922239 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome
RS193922240 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922241 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922242 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922243 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS193922244 FBN1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS193922245 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS193922246 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS193922247 GALT Health Risk Conflicting classifications of pathogenicity Galactosemia, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS193922248 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS193922250 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS193922251 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS193922252 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS193922253 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS193922254 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS193922255 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young
RS193922257 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
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