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
RS1690787769 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1690814987 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1690853952 PAX8 Health Risk Pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS1690856985 PAX8 Health Risk Likely pathogenic —
RS1690872807 RAB3GAP1 Health Risk Pathogenic —
RS1690880184 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1690892137 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS1690965885 PAX8 Health Risk Pathogenic Hypothyroidism, congenital
RS1690970101 PAX8 Health Risk Pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS1691026372 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1691030502 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1691037804 GLS Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS1691039670 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1691048388 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1691052813 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1691073965 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1691082638 SCN1A Health Risk Pathogenic/Likely pathogenic Seizure, Early-infantile DEE
RS1691088488 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1691091949 SCN1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS1691093633 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1691117338 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1691154033 PAX8 Health Risk Likely pathogenic Hypothyroidism, congenital
RS1691155605 PAX8;PAX8-AS1 Health Risk Likely pathogenic Hypothyroidism, congenital
RS1691171678 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1691180795 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1691183538 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1691231110 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1691232631 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1691236972 TET3 Health Risk Conflicting classifications of pathogenicity TET3 deficiency, Beck-Fahrner syndrome
RS1691258244 PRSS56 Health Risk Likely pathogenic Isolated microphthalmia 6, Isolated microphthalmia 6
RS1691301206 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1691361089 PAX8 Health Risk Pathogenic Congenital hypothyroidism, Congenital hypothyroidism
RS1691365745 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1691394055 CUL3 Health Risk Likely pathogenic —
RS1691405349 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1691525574 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1691536136 ABCB11 Health Risk Pathogenic —
RS1691557291 CHRND Health Risk Likely pathogenic —
RS1691647986 RAB3GAP1 Health Risk Pathogenic Warburg micro syndrome 1, Warburg micro syndrome 1
RS1691685791 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS1691690923 CHRND Health Risk Likely pathogenic —
RS1691699883 CHRND Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 3B, Lethal multiple pterygium syndrome
RS1691763747 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1691855470 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1691881913 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1691895200 GGCX Health Risk Pathogenic —
RS1691898752 GGCX Health Risk Pathogenic Vitamin K-dependent clotting factors, combined deficiency of
RS1691965570 GGCX Health Risk Pathogenic Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency, Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
RS1691972995 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS1692065656 CHRNG Health Risk Pathogenic —
RS1692107154 GGCX Health Risk Likely pathogenic Vitamin K-dependent clotting factors, combined deficiency of
RS1692153577 CUL3 Health Risk Pathogenic NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES, NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES
RS1692153643 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS1692162437 LOC102724058;SCN1A Health Risk Pathogenic —
RS1692166604 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1692180906 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1692186575 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1692187554 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS1692190479 SATB2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS1692192971 SATB2 Health Risk Pathogenic/Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS1692194381 SATB2 Health Risk Pathogenic —
RS1692195440 SATB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Chromosome 2q32-q33 deletion syndrome
RS1692195674 SATB2 Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1692200373 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1692200499 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1692204026 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1692211675 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Malignant tumor of breast
RS1692216921 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1692217798 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1692220779 ABCB11 Health Risk Pathogenic/Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1692227690 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1692230196 ABCB11 Health Risk Pathogenic —
RS1692287436 BMPR2 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS1692288591 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS1692301420 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1692302934 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1692304617 GGCX Health Risk Pathogenic —
RS1692308262 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1692335353 CUL3 Health Risk Pathogenic/Likely pathogenic Abnormal cardiovascular system morphology, Neurodevelopmental disorder with or without autism or seizures
RS1692428076 D2HGDH Health Risk Likely pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS1692452265 CUL3 Health Risk Likely pathogenic —
RS1692452859 D2HGDH Health Risk Pathogenic D-2-hydroxyglutaric aciduria 1, D-2-hydroxyglutaric aciduria 1
RS16924759 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS1692479893 HECW2 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, seizures
RS1692487571 CUL3 Health Risk Pathogenic NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES, NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES
RS1692492382 ALS2 Health Risk Pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1692508715 CNGA3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Achromatopsia 2
RS1692509021 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS1692543303 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1692546613 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1692577292 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1692581621 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1692586014 SCN1A Health Risk Pathogenic Early-infantile DEE, Inborn genetic diseases
RS1692586274 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1692588792 CUL3 Health Risk Pathogenic/Likely pathogenic CUL3-related disorder, CUL3-related disorder
RS1692619276 STAT1 Health Risk Likely pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1692619812 PAX3 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1692621563 PAX3 Health Risk Pathogenic —
RS1692623308 PAX3 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS1692739030 CNGA3 Health Risk Pathogenic Achromatopsia, Achromatopsia
« Prev 1 ... 1188 1189 1190 1191 1192 1193 1194 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →