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
RS2105889878 SCN1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS2105889888 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105889917 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS2105889931 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105890052 SCN1A Health Risk Pathogenic Familial hemiplegic migraine, Severe myoclonic epilepsy in infancy
RS2105890296 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105890375 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105890490 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105890565 SCN3A Health Risk Pathogenic Epilepsy, familial focal
RS2105890879 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105891209 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2105891349 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2105891596 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2105892972 SCN3A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 62
RS2105894081 CERKL Health Risk Pathogenic —
RS2105894253 CERKL Health Risk Pathogenic —
RS2105895111 SCN3A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105895501 SLC25A12 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 39
RS2105899026 ABCB11 Health Risk Pathogenic —
RS2105899169 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, Joubert syndrome 14
RS2105899200 TMEM237 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2105899220 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS2105900297 TMEM237 Health Risk Likely pathogenic Joubert syndrome 14, Joubert syndrome 14
RS2105900861 TMEM237 Health Risk Pathogenic Joubert syndrome 14, Joubert syndrome 14
RS2105901693 SCN1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS2105901754 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105901763 CPS1 Health Risk Likely pathogenic Pulmonary hypertension, neonatal
RS2105902170 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105902326 TMEM237 Health Risk Likely pathogenic —
RS2105902354 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105902403 SCN1A Health Risk Pathogenic —
RS2105902424 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105902476 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105902701 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105902725 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105907969 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2105908864 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS2105909854 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105909995 SCN1A Health Risk Pathogenic —
RS2105910926 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2105912281 ABCB11 Health Risk Pathogenic —
RS2105912644 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2105912800 ABCB11 Health Risk Pathogenic —
RS2105917488 ABCA12 Health Risk Likely pathogenic —
RS2105917562 ABCA12 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 4B, Autosomal recessive congenital ichthyosis 4B
RS2105917674 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105917940 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2105918357 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105918428 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105918665 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105920599 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS2105922845 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS2105922857 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2105926082 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2105928778 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105928782 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105928888 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105931529 ABCA12 Health Risk Likely pathogenic —
RS2105934712 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2105935255 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2105942900 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2105945363 NDUFS1 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 5
RS2105945930 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS2105947080 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2105952039 HIBCH Health Risk Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS2105957137 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105959576 BMPR2 Health Risk Likely pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2105959685 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2105959713 BMPR2 Health Risk Pathogenic —
RS2105959754 ABCB11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2105961269 ABCA12 Health Risk Likely pathogenic —
RS2105962254 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary arterial hypertension, Idiopathic and/or familial pulmonary arterial hypertension
RS2105962353 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2105962382 BMPR2 Health Risk Pathogenic —
RS2105962408 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS2105967839 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS2105967878 ABCB11 Health Risk Pathogenic —
RS2105967973 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2105968169 NDUFS1 Health Risk Pathogenic —
RS2105969251 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS2105972075 ALS2 Health Risk Pathogenic Amyotrophic lateral sclerosis type 2, juvenile
RS2105973807 NDUFS1 Health Risk Pathogenic —
RS2105976883 NDUFS1 Health Risk Likely pathogenic —
RS2105978931 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2105978950 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2105979879 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2105980153 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2105980214 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2105981050 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2105981099 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2105981231 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2105981299 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2105981467 CYP27A1 Health Risk Pathogenic Cholestanol storage disease, Cholestanol storage disease
RS2105981661 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105982029 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105982105 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105982111 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105982276 SCN1A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS2105982797 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105982815 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
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