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
RS2122623346 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122623497 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122623531 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122623590 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122625896 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122626858 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122627673 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122628653 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122628972 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122629233 TRIM28 Health Risk Pathogenic Predisposition to Wilms tumor, Predisposition to Wilms tumor
RS2122629515 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS2122630850 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122632102 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122633849 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122635879 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2122636612 FKRP Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS2122644306 JAG1 Health Risk Pathogenic —
RS2122644538 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122644925 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Arteriohepatic dysplasia
RS2122644940 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2122651554 SLC4A11 Health Risk Pathogenic —
RS2122653939 ATP8B1 Health Risk Pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS2122664852 EMC10 Health Risk Pathogenic Neurodevelopmental disorder with dysmorphic facies and variable seizures, Neurodevelopmental disorder with dysmorphic facies and variable seizures
RS2122670288 KPTN Health Risk Pathogenic Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
RS2122673257 THBD Health Risk Pathogenic Thrombomodulin-related bleeding disorder, Thrombomodulin-related bleeding disorder
RS2122677940 NLRP12 Health Risk Likely pathogenic Familial cold autoinflammatory syndrome 2, Familial cold autoinflammatory syndrome 2
RS2122686345 ZNF341 Health Risk Likely pathogenic Hyper-IgE recurrent infection syndrome 3, autosomal recessive
RS2122687472 KPTN Health Risk Pathogenic Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
RS2122687547 KPTN Health Risk Likely pathogenic —
RS2122691390 KIZ Health Risk Pathogenic —
RS2122711426 ATP8B1 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis
RS2122731441 ZNF341 Health Risk Pathogenic —
RS2122740067 ADNP Health Risk Likely pathogenic See cases, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122741062 ADNP Health Risk Pathogenic —
RS2122742586 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122743080 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122743279 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122743549 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122746230 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122746369 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122746625 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122747616 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122749829 ADNP Health Risk Pathogenic —
RS2122752568 ADNP Health Risk Conflicting classifications of pathogenicity ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122753883 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122759209 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122760486 ADNP Health Risk Conflicting classifications of pathogenicity —
RS2122761731 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122764752 ADNP Health Risk Likely pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122803080 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS2122814957 ATP9A Health Risk Pathogenic See cases, Neurodevelopmental disorder with poor growth and behavioral abnormalities
RS2122826639 ADNP Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2122833532 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS2122833556 ASXL1 Health Risk Pathogenic —
RS2122839457 TRPM4 Health Risk Pathogenic/Likely pathogenic Progressive familial heart block type IB, Cardiovascular phenotype
RS2122840340 ADNP Health Risk Pathogenic ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
RS2122840680 ADNP Health Risk Pathogenic —
RS2122868199 ATP9A Health Risk Pathogenic See cases, See cases
RS2122962179 SALL4 Health Risk Likely pathogenic —
RS2122962507 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2122963096 TP53RK Health Risk Conflicting classifications of pathogenicity Galloway-Mowat syndrome 4, Galloway-Mowat syndrome 4
RS2122963183 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2122964551 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2122965458 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2122966358 SALL4 Health Risk Likely pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2122967143 SALL4 Health Risk Likely pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS2122973105 PRKCG Health Risk Pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2122975686 EXOC3L2 Health Risk Pathogenic Meckel-like syndrome, Meckel-like syndrome
RS2122976509 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2122988484 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2122988567 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2122988688 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2123003858 SNAP25 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2123019421 SNAP25 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2123036034 GZF1 Health Risk Pathogenic —
RS2123037779 GZF1 Health Risk Pathogenic —
RS2123045055 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS2123045187 SLC2A10 Health Risk Pathogenic/Likely pathogenic Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2123045274 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS2123057775 GZF1 Health Risk Pathogenic Joint laxity, short stature
RS2123062030 SLC2A10 Health Risk Pathogenic Arterial tortuosity syndrome, Arterial tortuosity syndrome
RS2123063802 SNAP25 Health Risk Likely pathogenic Global developmental delay, Developmental and epileptic encephalopathy
RS2123063830 SNAP25 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, SNAP25-related developmental delays and epileptic encephalopathies
RS2123063984 SNAP25 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2123105057 FERMT1 Health Risk Pathogenic —
RS2123115725 DPM1 Health Risk Likely pathogenic Congenital disorder of glycosylation type 1E, Congenital disorder of glycosylation type 1E
RS2123118335 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS2123120184 SNAP25 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Congenital myasthenic syndrome 18
RS2123120544 SNAP25 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, Congenital myasthenic syndrome 18
RS2123136215 SHANK1 Health Risk Pathogenic/Likely pathogenic SHANK1-related Neurodevelopmental Disorder, See cases
RS2123140877 FERMT1 Health Risk Pathogenic —
RS2123150933 TAF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2123159234 SNAP25 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Congenital myasthenic syndrome 18
RS2123159261 SNAP25 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2123159470 SNAP25 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Congenital myasthenic syndrome 18
RS2123159524 SNAP25 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2123178553 SHANK1 Health Risk Pathogenic —
RS2123205099 SNAP25 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2123205311 SNAP25 Health Risk Pathogenic Congenital myasthenic syndrome 18, Developmental and epileptic encephalopathy
RS2123205373 SNAP25 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Seizure
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