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
RS2105817078 SCN1A Health Risk Pathogenic —
RS2105817176 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105820158 CERKL Health Risk Pathogenic —
RS2105822776 SATB2 Health Risk Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105822848 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105823042 NCKAP1 Health Risk Likely pathogenic —
RS2105823081 NCKAP1 Health Risk Likely pathogenic Global developmental delay, Global developmental delay
RS2105823583 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105827235 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105827355 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105827770 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105827881 SCN1A Health Risk Likely pathogenic —
RS2105827941 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105828550 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105829160 SCN1A Health Risk Pathogenic Seizure, Seizure
RS2105829215 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105832057 CERKL Health Risk Pathogenic —
RS2105832223 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2105832274 CERKL Health Risk Likely pathogenic —
RS2105834651 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105835707 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105837590 SLC25A12 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS2105840261 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2105841790 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105841828 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105842394 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105843194 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105843552 SCN1A Health Risk Pathogenic Seizure, Early-infantile DEE
RS2105844086 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105844138 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105844323 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105844439 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105846538 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 26, Retinitis pigmentosa
RS2105846669 CERKL Health Risk Pathogenic —
RS2105846718 CERKL Health Risk Pathogenic —
RS2105846763 CERKL Health Risk Pathogenic —
RS2105849998 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105850080 SATB2 Health Risk Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105850165 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105850258 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2105850381 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105851315 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105851392 CRYGD Health Risk Pathogenic/Likely pathogenic Aculeiform cataract, Aculeiform cataract
RS2105851438 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105851829 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS2105851922 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105852267 SCN1A Health Risk Pathogenic Early-infantile DEE, Seizure
RS2105857780 CRYGC Health Risk Pathogenic —
RS2105857860 CRYGC Health Risk Pathogenic —
RS2105857887 CRYGC Health Risk Likely pathogenic Nuclear pulverulent cataract, Nuclear pulverulent cataract
RS2105857937 CRYGC Health Risk Pathogenic Cataract 2, multiple types
RS2105858730 SLC25A12 Health Risk Likely pathogenic —
RS2105858978 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2105859007 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2105859077 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2105859138 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2105860766 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105861043 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105861331 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105861548 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B
RS2105862149 SCN1A Health Risk Likely pathogenic Autosomal dominant epilepsy, Autosomal dominant epilepsy
RS2105862170 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105862220 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105862310 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105862483 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105862581 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105862847 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105862926 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS2105862987 SCN1A Health Risk Pathogenic —
RS2105865785 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105865877 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105865970 SATB2 Health Risk Pathogenic —
RS2105866649 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105866757 SCN1A Health Risk Pathogenic Seizure, Seizure
RS2105867004 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105867367 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105867534 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105867988 SATB2 Health Risk Likely pathogenic See cases, See cases
RS2105867993 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105868016 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105868028 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105868295 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105868306 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105868996 NCKAP1 Health Risk Likely pathogenic NCKAP1-associated Neurodevelopmental disorder, NCKAP1-associated Neurodevelopmental disorder
RS2105874070 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105874088 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105874284 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105874408 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105874493 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105876276 ABCB11 Health Risk Pathogenic —
RS2105885940 SLC25A12 Health Risk Pathogenic —
RS2105888351 ABCB11 Health Risk Pathogenic —
RS2105888359 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2105888495 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2105888708 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105888823 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105888862 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2105888928 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105889320 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105889854 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
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