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
RS1554613998 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554614022 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554614024 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554614038 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554614131 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554614157 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554614402 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1554614423 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554614648 HSPB1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1554614680 HSPB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2F, Charcot-Marie-Tooth disease axonal type 2F
RS1554614771 TMEM67 Health Risk Pathogenic —
RS1554614893 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1554615511 EYA1 Health Risk Pathogenic/Likely pathogenic Branchiootorenal syndrome 1, Melnick-Fraser syndrome
RS1554615516 TMEM67 Health Risk Pathogenic COACH syndrome 1, COACH syndrome 1
RS1554615536 EYA1 Health Risk Pathogenic Melnick-Fraser syndrome, Melnick-Fraser syndrome
RS1554616627 YWHAG Health Risk Pathogenic Developmental and epileptic encephalopathy, 56
RS1554616628 YWHAG Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 56
RS1554616630 YWHAG Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 56
RS1554617011 TRPS1 Health Risk Pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1554617573 TRPS1 Health Risk Likely pathogenic Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal dysplasia type I
RS1554617580 TRPS1 Health Risk Conflicting classifications of pathogenicity Trichorhinophalangeal dysplasia type I, Trichorhinophalangeal syndrome
RS1554617582 TRPS1 Health Risk Pathogenic Langer-Giedion syndrome, Inborn genetic diseases
RS1554618404 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554618413 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554618417 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554618420 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554619292 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia
RS1554619303 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia
RS1554619354 SMARCA2 Health Risk Likely pathogenic —
RS1554619498 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554619500 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554619509 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS1554619513 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1554619514 CNGB3 Health Risk Likely pathogenic Achromatopsia 3, Achromatopsia 3
RS1554621211 VLDLR Health Risk Pathogenic —
RS1554622049 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Benign neonatal seizures
RS1554622608 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554622622 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554622647 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554622718 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554622736 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS1554623111 SMARCA2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554623112 SMARCA2 Health Risk Pathogenic/Likely pathogenic Nicolaides-Baraitser syndrome, Intellectual disability
RS1554623490 SACK1H Health Risk Pathogenic Amelogenesis imperfecta, hypocalcification type
RS1554623885 SMARCA2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554624095 SMARCA2 Health Risk Likely pathogenic —
RS1554624100 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS1554625334 ZP3 Health Risk Pathogenic Empty follicle syndrome, Oocyte maturation defect 3
RS1554625617 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554625632 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554625693 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554625838 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS1554625872 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554626549 KCNQ3 Health Risk Pathogenic Self-limited epilepsy with centrotemporal spikes, Seizures
RS1554626829 SMARCA2 Health Risk Likely pathogenic —
RS1554627019 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
RS1554627025 KCNQ3 Health Risk Likely pathogenic —
RS1554627073 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1554627218 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizure
RS1554627439 KCNQ3 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS1554628460 KCNV2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1554629007 SMARCA2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554632235 TRAPPC9 Health Risk Pathogenic —
RS1554634091 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554634138 VPS13B Health Risk Pathogenic —
RS1554635488 MAFA Health Risk Likely pathogenic Islet cell adenomatosis, Islet cell adenomatosis
RS1554639173 NFIB Health Risk Pathogenic Macrocephaly, Intellectual disability
RS1554641505 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554641519 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554641549 PUF60 Health Risk Likely pathogenic —
RS1554641737 GLDC Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy 1
RS1554641887 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554642022 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1554642294 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554642300 GLDC Health Risk Likely pathogenic —
RS1554642573 PUF60 Health Risk Pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1554643099 PUF60 Health Risk Pathogenic/Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1554643142 PUF60 Health Risk Pathogenic/Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1554643168 PUF60 Health Risk Likely pathogenic —
RS1554643354 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1554643360 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554643370 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy
RS1554643463 PUF60 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554643473 PUF60 Health Risk Likely pathogenic Inborn genetic diseases, 8q24.3 microdeletion syndrome
RS1554643584 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, CHARGE syndrome
RS1554643598 PUF60 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1554643619 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1554643738 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554644678 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554645052 RUSC2 Health Risk Pathogenic Intellectual disability, autosomal recessive 61
RS1554645551 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554646517 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554646529 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554646634 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554646653 GLDC Health Risk Likely pathogenic Glycine encephalopathy 1, Glycine encephalopathy
RS1554646710 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554648060 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1554648113 GLDC Health Risk Likely pathogenic Glycine encephalopathy, Glycine encephalopathy
RS1554648117 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1554648860 TG Health Risk Pathogenic/Likely pathogenic —
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