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
RS2131511782 GATA3 Health Risk Likely pathogenic —
RS2131512540 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2131512957 GDAP1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2131513223 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2131513660 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131513670 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2131515110 ZNF462 Health Risk Pathogenic —
RS2131520030 SHOC1 Health Risk Pathogenic Spermatogenic failure 75, Spermatogenic failure 75
RS2131520063 KCNT1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 5, Developmental and epileptic encephalopathy
RS2131520977 OPTN Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12
RS2131521530 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131521557 GDAP1 Health Risk Likely pathogenic —
RS2131521760 GDAP1 Health Risk Likely pathogenic —
RS2131521957 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2131522449 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2131525308 KRIT1 Health Risk Likely pathogenic —
RS2131525596 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131525635 IFT74 Health Risk Pathogenic —
RS2131525662 IFT74 Health Risk Pathogenic Multiple Morphological Anomalies of Sperm Flagella (MMAF), Spermatogenic failure 58
RS2131526298 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131526402 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131527403 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131528253 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2131528405 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2131529670 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS2131530745 ZNF462 Health Risk Pathogenic —
RS2131535795 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131535952 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2131536069 STXBP1 Health Risk Pathogenic/Likely pathogenic Seizure, Developmental and epileptic encephalopathy
RS2131536257 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2131536431 STXBP1 Health Risk Conflicting classifications of pathogenicity See cases, Developmental and epileptic encephalopathy
RS2131540817 VPS13A Health Risk Likely pathogenic —
RS2131540908 IFT74 Health Risk Pathogenic Joubert syndrome 40, Joubert syndrome 40
RS2131541114 IFT74 Health Risk Pathogenic Bardet-Biedl syndrome 22, Bardet-Biedl syndrome 22
RS2131543392 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2131546441 VPS13A Health Risk Pathogenic —
RS2131553093 KCNT1 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2131554631 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2131554917 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS2131556360 VPS13A Health Risk Pathogenic —
RS2131558198 MCM10 Health Risk Pathogenic Immunodeficiency 80 with or without congenital cardiomyopathy, Fetal Cardiomyopathy
RS2131559197 CNGB3 Health Risk Pathogenic —
RS2131559324 CNGB3 Health Risk Pathogenic —
RS2131561276 STXBP1 Health Risk Likely pathogenic —
RS2131561363 STXBP1 Health Risk Pathogenic —
RS2131563546 VPS13A Health Risk Likely pathogenic —
RS2131565717 CNGB3 Health Risk Pathogenic —
RS2131565806 CNGB3 Health Risk Pathogenic —
RS2131577612 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS2131577839 VPS13A Health Risk Pathogenic —
RS2131579842 MCM10 Health Risk Pathogenic Immunodeficiency 80 with or without congenital cardiomyopathy, Immunodeficiency 80 with or without congenital cardiomyopathy
RS2131580177 VPS13A Health Risk Pathogenic —
RS2131580291 CNGB3 Health Risk Pathogenic —
RS2131581257 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS2131582838 CNGB3 Health Risk Pathogenic —
RS2131585371 CNGB3 Health Risk Pathogenic —
RS2131587158 VPS13A Health Risk Likely pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS2131588122 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS2131589934 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2131591339 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2131594360 CNGB3 Health Risk Pathogenic —
RS2131597459 CNGB3 Health Risk Pathogenic —
RS2131602318 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2131602837 ELN Health Risk Likely pathogenic —
RS2131603022 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2131604859 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2131605715 INPP5E Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2131605763 INPP5E Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS2131606542 CUBN Health Risk Likely pathogenic See cases, See cases
RS2131607846 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2131608672 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2131608743 INPP5E Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2131610068 MPDZ Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS2131610473 INPP5E Health Risk Likely pathogenic Rod-cone dystrophy, Rod-cone dystrophy
RS2131611242 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2131614057 VPS13A Health Risk Likely pathogenic —
RS2131614102 VPS13A Health Risk Pathogenic —
RS2131614848 CNGB3 Health Risk Pathogenic —
RS2131614875 ZFHX4 Health Risk Pathogenic —
RS2131615148 CNGB3 Health Risk Pathogenic —
RS2131616018 CNGB3 Health Risk Pathogenic —
RS2131616036 COL27A1 Health Risk Likely pathogenic Steel syndrome, Steel syndrome
RS2131616094 COL27A1 Health Risk Pathogenic —
RS2131616447 DHTKD1 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
RS2131618521 COL27A1 Health Risk Likely pathogenic Steel syndrome, Steel syndrome
RS2131618846 CNGB3 Health Risk Likely pathogenic —
RS2131618872 CNGB3 Health Risk Pathogenic —
RS2131618938 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS2131619089 CNGB3 Health Risk Pathogenic —
RS2131619700 NANS Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Genevieve type
RS2131619961 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2131620305 UBAP1 Health Risk Pathogenic Spastic paraplegia 80, autosomal dominant
RS2131620438 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS2131620472 INPP5E Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Joubert syndrome
RS2131625525 WDR37 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2131627071 COL27A1 Health Risk Likely pathogenic —
RS2131628148 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS2131628564 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, TSC1-related disorder
RS2131628647 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2131629002 DHTKD1 Health Risk Pathogenic 2-aminoadipic 2-oxoadipic aciduria, 2-aminoadipic 2-oxoadipic aciduria
« Prev 1 ... 1741 1742 1743 1744 1745 1746 1747 ... 4509 Next »

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

Get Started Free →