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
RS2152258991 ABCC6 Health Risk Likely pathogenic —
RS2152270212 ABCC6 Health Risk Conflicting classifications of pathogenicity Arterial calcification, generalized
RS2152278559 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2152281284 MEF2C Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2152283906 ABCC6 Health Risk Likely pathogenic —
RS2152284932 TRIO Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 63
RS2152285036 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2152289369 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152289454 EVC Health Risk Likely pathogenic —
RS2152290090 TRIO Health Risk Likely pathogenic Tip-toe gait, Tip-toe gait
RS2152305937 TRIO Health Risk Likely pathogenic Intellectual developmental disorder, autosomal dominant 63
RS2152325575 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2152326431 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152326471 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2152326510 ALDH3A2 Health Risk Pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2152326544 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152326727 ALDH3A2 Health Risk Likely pathogenic —
RS2152326770 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152328249 ALDH3A2 Health Risk Likely pathogenic —
RS2152328365 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2152328724 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2152328735 ALDH3A2 Health Risk Pathogenic —
RS2152328756 ALDH3A2 Health Risk Likely pathogenic —
RS2152329943 ALDH3A2 Health Risk Pathogenic —
RS2152330714 ALDH3A2 Health Risk Likely pathogenic —
RS2152331137 ALDH3A2 Health Risk Pathogenic —
RS2152331147 ALDH3A2 Health Risk Pathogenic/Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS2152333224 ALDH3A2 Health Risk Pathogenic —
RS2152335941 TRIO Health Risk Pathogenic —
RS2152340509 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152340689 TRIO Health Risk Likely pathogenic —
RS2152340697 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2152340942 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152344481 TRIO Health Risk Likely pathogenic —
RS2152345583 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152348001 TRIO Health Risk Pathogenic —
RS2152351208 TRIO Health Risk Pathogenic —
RS2152354197 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2152362140 EVC Health Risk Likely pathogenic —
RS2152363791 TRIO Health Risk Conflicting classifications of pathogenicity Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2152363798 TRIO Health Risk Pathogenic —
RS2152370482 DST Health Risk Likely pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2152373759 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS2152373800 TRIO Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2152375194 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152375437 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152382691 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6
RS2152383049 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2152385271 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2152387124 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2152387847 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152387946 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152388054 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2152391901 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152392855 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152392876 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152392902 LOC130059818;SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152394710 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2152400490 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152400493 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152402048 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152402791 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152403168 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2152403446 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152403474 SPG7 Health Risk Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152403519 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152403759 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152409202 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2152409901 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152410293 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152411067 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152411070 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152412161 SPG7 Health Risk Pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152412171 SPG7 Health Risk Likely pathogenic —
RS2152412388 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS2152417708 THUMPD1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies
RS2152417882 THUMPD1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies
RS2152417926 THUMPD1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2152419456 THUMPD1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with speech delay and variable ocular anomalies
RS2152422891 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2152427474 DST Health Risk Likely pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2152440123 DST Health Risk Likely pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2152474705 BRCA1 Health Risk Pathogenic Malignant tumor of breast, Breast-ovarian cancer
RS2152476215 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2152478652 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2152478688 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2152478820 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2152486042 DST Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2152497250 MEF2C Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS2152501157 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2152505917 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2152506082 DST Health Risk Likely pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2152507134 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2152514800 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2152514807 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2152514867 SNHG14;UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS2152515149 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2152515439 UBE3A Health Risk Pathogenic Angelman syndrome, Angelman syndrome
RS2152515457 UBE3A Health Risk Conflicting classifications of pathogenicity —
RS2152522245 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
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