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
RS2151383848 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151384150 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome
RS2151385509 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151385663 CREBBP Health Risk Pathogenic Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS2151386276 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS2151386374 WWOX Health Risk Pathogenic Malignant tumor of esophagus, Malignant tumor of esophagus
RS2151387560 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151387700 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS2151388871 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151389141 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2151394960 ADGRV1 Health Risk Pathogenic —
RS2151398072 ASPH Health Risk Pathogenic Exercise-induced malignant hyperthermia, Exercise-induced malignant hyperthermia
RS2151405469 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2151405491 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2151410142 CACNB4 Health Risk Likely pathogenic Spastic ataxia, Spastic ataxia
RS2151416957 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2151416991 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2151417795 TNFRSF9 Health Risk Likely pathogenic —
RS2151417852 VARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS2151419208 VARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, seizures
RS2151425479 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425497 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425505 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2151425528 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425531 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425597 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425601 NF1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151425611 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425736 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425754 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2151425802 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425815 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425819 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151425842 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425856 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425907 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425977 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151425993 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426016 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426027 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426094 NF1 Health Risk Pathogenic —
RS2151426113 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426120 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426166 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426173 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426834 NF1 Health Risk Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS2151426865 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2151426874 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426879 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426934 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2151426942 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426968 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426983 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151426990 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151427010 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151427468 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151427470 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2151427546 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151427564 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151427599 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151427620 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151427637 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151427639 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151428029 AP3B2 Health Risk Pathogenic —
RS2151428040 AP3B2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 48
RS2151428754 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151428764 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151428776 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151428834 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151428861 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151428869 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151428891 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151428892 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151428963 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429126 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429138 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429255 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429268 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429314 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429322 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429346 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429354 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429357 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429364 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429427 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2151429472 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429494 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS2151429516 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429528 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429530 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS2151429583 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429593 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429717 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429750 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429753 NF1 Health Risk Pathogenic —
RS2151429795 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151429826 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151430455 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS2151430476 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2151430481 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
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