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
RS1057518576 CHD7 Health Risk Pathogenic —
RS1057518577 GRIN2B Health Risk Pathogenic —
RS1057518578 ANKRD11 Health Risk Likely pathogenic —
RS1057518579 CYBB Health Risk Pathogenic —
RS1057518580 DYRK1A Health Risk Pathogenic —
RS1057518587 EEF1A2 Health Risk Conflicting classifications of pathogenicity EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy, EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy
RS1057518588 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS1057518593 TUBB3 Health Risk Likely pathogenic —
RS1057518594 ATP2C1 Health Risk Pathogenic —
RS1057518596 PHEX Health Risk Pathogenic —
RS1057518597 TGFB2 Health Risk Likely pathogenic —
RS1057518598 CUL4B Health Risk Likely pathogenic —
RS1057518600 PCYT1A Health Risk Likely pathogenic —
RS1057518602 AKT1 Health Risk Conflicting classifications of pathogenicity Cowden syndrome 6, Cowden syndrome 6
RS1057518603 SYNE1 Health Risk Likely pathogenic —
RS1057518604 PKD1 Health Risk Pathogenic/Likely pathogenic PKD1-related disorder, Polycystic kidney disease
RS1057518605 NAA10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ogden syndrome
RS1057518613 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1057518614 SATB2 Health Risk Pathogenic —
RS1057518615 CACNA1A Health Risk Conflicting classifications of pathogenicity CACNA1A-related disorder, CACNA1A-related disorder
RS1057518616 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS1057518618 RARS1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1057518619 KCNQ2 Health Risk Likely pathogenic —
RS1057518621 KCNB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 26
RS1057518623 EXT1 Health Risk Likely pathogenic —
RS1057518625 ALG1 Health Risk Pathogenic —
RS1057518626 FLNA Health Risk Pathogenic —
RS1057518627 DVL1 Health Risk Likely pathogenic —
RS1057518628 CD40LG Health Risk Likely pathogenic —
RS1057518629 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1057518632 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1057518633 WAS Health Risk Pathogenic —
RS1057518635 BRCA2 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS1057518636 BRCA1 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS1057518637 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS1057518638 BRCA2 Health Risk Pathogenic Breast neoplasm, Breast-ovarian cancer
RS1057518639 BRCA1 Health Risk Likely pathogenic Breast neoplasm, Hereditary breast ovarian cancer syndrome
RS1057518641 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast neoplasm, Hereditary cancer-predisposing syndrome
RS1057518643 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057518644 HGSNAT Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-C
RS1057518645 C1R Health Risk Likely pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057518646 C1R Health Risk Pathogenic Ehlers-Danlos syndrome, periodontal type 1
RS1057518647 APOB Health Risk Likely pathogenic Familial hypobetalipoproteinemia 1, Hypobetalipoproteinemia
RS1057518648 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1057518650 BRWD3 Health Risk Pathogenic Intellectual disability, X-linked 93
RS1057518653 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1057518654 COL4A1 Health Risk Likely pathogenic Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS1057518655 DNM1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS1057518656 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS1057518657 GLI2 Health Risk Likely pathogenic Holoprosencephaly 9, Holoprosencephaly 9
RS1057518658 SCN2A Health Risk Pathogenic Autism, Autism
RS1057518659 KANSL1 Health Risk Likely pathogenic Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS1057518660 SHH Health Risk Pathogenic Holoprosencephaly 3, SHH-related disorder
RS1057518661 NOTCH1 Health Risk Pathogenic Aortic valve disease 1, Aortic valve disease 1
RS1057518662 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1057518663 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS1057518665 KRIT1 Health Risk Pathogenic/Likely pathogenic Cerebral cavernous malformation, KRIT1-related disorder
RS1057518666 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Stickler syndrome
RS1057518667 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS1057518668 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1057518669 SOX9 Health Risk Likely pathogenic Camptomelic dysplasia, Camptomelic dysplasia
RS1057518670 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1057518671 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1057518672 SOX11 Health Risk Pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS1057518673 ACTG1 Health Risk Likely pathogenic Baraitser-winter syndrome 2, Baraitser-winter syndrome 2
RS1057518674 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1057518677 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1057518678 GNAO1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 17
RS1057518679 TJP2 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1057518680 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS1057518681 PUF60 Health Risk Likely pathogenic 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
RS1057518682 MEGF10 Health Risk Likely pathogenic MEGF10-related myopathy, MEGF10-related myopathy
RS1057518683 SPRED1 Health Risk Pathogenic/Likely pathogenic Legius syndrome, Cardiovascular phenotype
RS1057518685 GFAP Health Risk Likely pathogenic Alexander disease, Alexander disease
RS1057518686 TUBB3 Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 1, Complex cortical dysplasia with other brain malformations 1
RS1057518687 NLRC4 Health Risk Likely pathogenic Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
RS1057518688 CACNB4 Health Risk Pathogenic Epilepsy, idiopathic generalized
RS1057518689 GLI2 Health Risk Pathogenic Holoprosencephaly 9, Holoprosencephaly 9
RS1057518691 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, ARID1B-related BAFopathy
RS1057518692 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1057518694 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS1057518696 GLI2 Health Risk Pathogenic Holoprosencephaly 9, Holoprosencephaly 9
RS1057518697 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Spastic paraplegia
RS1057518698 GLI3 Health Risk Pathogenic Polydactyly, postaxial
RS1057518699 LAS1L Health Risk Pathogenic/Likely pathogenic Wilson-Turner syndrome, Global developmental delay
RS1057518700 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS1057518701 SHOX Health Risk Pathogenic SHOX-related short stature, SHOX-related short stature
RS1057518702 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS1057518703 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS1057518704 HUWE1 Health Risk Likely pathogenic Intellectual disability, X-linked syndromic
RS1057518705 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1057518706 COL7A1 Health Risk Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS1057518707 DDX3X Health Risk Likely pathogenic Intellectual disability, X-linked 102
RS1057518708 ATRX Health Risk Likely pathogenic Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS1057518711 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1057518713 SLC12A6 Health Risk Pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1057518714 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS1057518715 AGPAT2 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS1057518716 OBSL1 Health Risk Pathogenic 3M syndrome 2, 3M syndrome 2
RS1057518718 MECP2 Health Risk Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
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