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
RS2105619771 SCN3A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 62
RS2105620059 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS2105620090 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS2105621335 SCN3A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 62
RS2105621618 SCN3A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 62
RS2105621916 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS2105622062 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS2105622677 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105625178 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105627349 MBD5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 1
RS2105627859 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS2105628182 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS2105628869 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105629680 LNPK Health Risk Likely pathogenic Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum
RS2105630210 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105630442 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105631709 SLC40A1 Health Risk Likely pathogenic Hemochromatosis type 4, Hemochromatosis type 4
RS2105632746 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2105633124 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105633619 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105635449 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105635851 SCN3A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 62
RS2105636234 SCN3A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 62
RS2105636283 SCN3A Health Risk Likely pathogenic —
RS2105639771 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105642195 MBD5 Health Risk Pathogenic Intellectual disability, autosomal dominant 1
RS2105652981 COL5A2 Health Risk Likely pathogenic —
RS2105672766 EXOC6B Health Risk Likely pathogenic —
RS2105675391 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
RS2105685436 EXOC6B Health Risk Conflicting classifications of pathogenicity —
RS2105686869 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2105686874 COL5A2 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2105689812 DYNC1I2 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly and structural brain anomalies, Neurodevelopmental disorder with microcephaly and structural brain anomalies
RS2105693633 AGPS Health Risk Likely pathogenic —
RS2105706426 SATB2 Health Risk Conflicting classifications of pathogenicity Chromosome 2q32-q33 deletion syndrome, Inborn genetic diseases
RS2105706833 DCAF17 Health Risk Pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS2105707111 SATB2 Health Risk Pathogenic Cerebellar ataxia, Cerebellar ataxia
RS2105711729 BMPR2 Health Risk Likely pathogenic Pulmonary venoocclusive disease 1, Pulmonary venoocclusive disease 1
RS2105712248 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Pulmonary arterial hypertension
RS2105712267 BMPR2 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS2105712615 COL5A2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2105727398 PDE11A Health Risk Likely pathogenic Pigmented nodular adrenocortical disease, primary
RS2105754294 ICOS Health Risk Pathogenic Immunodeficiency, common variable
RS2105763978 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS2105768966 SATB2 Health Risk Pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105769270 SATB2 Health Risk Pathogenic/Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105772518 SCN3A Health Risk Likely pathogenic —
RS2105772689 SCN3A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 62
RS2105772857 CTLA4 Health Risk Pathogenic Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency, Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
RS2105776898 SCN3A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 62
RS2105784954 EEF1B2 Health Risk Pathogenic Global developmental delay, Global developmental delay
RS2105787237 CERKL Health Risk Pathogenic —
RS2105789154 SATB2 Health Risk Likely pathogenic —
RS2105792738 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105793066 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105793178 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105793286 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105793395 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105794174 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105794473 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105794716 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105795469 SATB2 Health Risk Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS2105795792 GAD1 Health Risk Pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS2105795955 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105796316 SCN1A Health Risk Pathogenic —
RS2105796481 SCN1A Health Risk Pathogenic —
RS2105796501 SCN1A Health Risk Pathogenic —
RS2105797148 CERKL Health Risk Pathogenic —
RS2105797158 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Cone-rod dystrophy
RS2105797652 SCN1A Health Risk Likely pathogenic —
RS2105797671 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105797686 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105801986 GAD1 Health Risk Pathogenic Developmental and epileptic encephalopathy 89, Developmental and epileptic encephalopathy 89
RS2105803582 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2105803798 CERKL Health Risk Pathogenic —
RS2105804184 CERKL Health Risk Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2105805349 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105805625 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS2105805638 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105805670 CERKL Health Risk Pathogenic —
RS2105805934 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105806061 C2CD6 Health Risk Pathogenic Spermatogenic failure 68, Spermatogenic failure 68
RS2105806212 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2105806338 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy 6B
RS2105806431 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105806501 SCN1A Health Risk Likely pathogenic —
RS2105807030 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105807206 SCN1A Health Risk Pathogenic/Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105807547 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105807979 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105808409 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS2105808458 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105808640 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS2105808820 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105808860 SCN1A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105808993 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2105816922 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS2105816934 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2105817051 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS2105817065 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Inborn genetic diseases
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