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
RS1057519430 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1057519431 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS1057519432 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS1057519433 NALCN Health Risk Pathogenic/Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS1057519434 NR2F1 Health Risk Pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS1057519435 ZBTB20 Health Risk Pathogenic/Likely pathogenic Primrose syndrome, SHORT syndrome
RS1057519436 DHX30 Health Risk Pathogenic 6 conditions, Neurodevelopmental disorder with severe motor impairment and absent language
RS1057519437 EBF3 Health Risk Pathogenic Renal tubular dysgenesis, Neurogenic bladder
RS1057519439 DNAH7 Health Risk Pathogenic Abnormal muscle tone, Seizure
RS1057519440 GSPT2 Health Risk Pathogenic Seizure, Delayed speech and language development
RS1057519441 GUCY2C Health Risk Pathogenic Abnormal biliary tract morphology, Asplenia
RS1057519442 SLC30A7 Health Risk Pathogenic Joubert syndrome 1, Joubert syndrome 1
RS1057519443 MPP4 Health Risk Pathogenic 7 conditions, 7 conditions
RS1057519444 SYN3 Health Risk Pathogenic Global developmental delay, Cerebellar vermis atrophy
RS1057519447 FBXL4 Health Risk Pathogenic/Likely pathogenic Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1057519448 NAA10 Health Risk Likely pathogenic Ogden syndrome, Ogden syndrome
RS1057519449 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS1057519450 ACOT1 Health Risk Pathogenic Generalized hypotonia, Generalized hypotonia
RS1057519451 NRXN3 Health Risk Pathogenic Short stature, Relative macrocephaly
RS1057519452 USP19 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057519453 KCND3 Health Risk Pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS1057519454 PMPCA Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 2, Autosomal recessive spinocerebellar ataxia 2
RS1057519455 POLR1C Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11, Treacher Collins syndrome 3
RS1057519456 POLR1C Health Risk Pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS1057519457 SCN1B Health Risk Pathogenic Cardiomyopathy, Cardiomyopathy
RS1057519458 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057519459 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057519460 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057519461 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057519462 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS1057519463 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057519464 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057519465 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057519466 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057519467 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057519468 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1057519469 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, Cholestanol storage disease
RS1057519471 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1057519472 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1057519474 FOXC1 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1057519475 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1057519477 FOXC1 Health Risk Pathogenic Anterior segment dysgenesis 3, Anterior segment dysgenesis 3
RS1057519478 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1057519479 FOXC1 Health Risk Pathogenic/Likely pathogenic Axenfeld-Rieger syndrome type 3, Hypertelorism and tetralogy of fallot
RS1057519480 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Anterior segment dysgenesis 3
RS1057519481 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1057519482 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS1057519483 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS1057519484 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS1057519485 PITX2 Health Risk Likely pathogenic Axenfeld-Rieger syndrome type 1, Anterior segment dysgenesis 4
RS1057519487 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS1057519488 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS1057519489 PITX2 Health Risk Pathogenic Axenfeld-Rieger syndrome type 1, Axenfeld-Rieger syndrome type 1
RS1057519491 IMPA1 Health Risk Pathogenic Intellectual disability, autosomal recessive 59
RS1057519492 NLRP1 Health Risk Pathogenic Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
RS1057519493 NLRP1 Health Risk Likely pathogenic Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome, Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
RS1057519495 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1057519496 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1057519498 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS1057519499 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS1057519501 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1057519502 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Cardiovascular phenotype
RS1057519503 NCF1 Health Risk Pathogenic Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy 4
RS1057519506 STIM1 Health Risk Pathogenic Combined immunodeficiency due to STIM1 deficiency, Combined immunodeficiency due to STIM1 deficiency
RS1057519507 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder 3A (Zellweger)
RS1057519508 KDF1 Health Risk Pathogenic Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type
RS1057519509 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS1057519510 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Inborn genetic diseases
RS1057519511 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Neurodevelopmental disorder
RS1057519512 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS1057519513 BRPF1 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, See cases
RS1057519514 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS1057519515 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS1057519516 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS1057519517 BRPF1 Health Risk Pathogenic Intellectual developmental disorder with dysmorphic facies and ptosis, Intellectual developmental disorder with dysmorphic facies and ptosis
RS1057519518 EBF3 Health Risk Likely pathogenic Hypotonia, ataxia
RS1057519519 EBF3 Health Risk Pathogenic/Likely pathogenic Hypotonia, ataxia
RS1057519520 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1057519521 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1057519522 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1057519523 SCN2A Health Risk Pathogenic Malignant migrating partial seizures of infancy, Malignant migrating partial seizures of infancy
RS1057519524 SCN2A Health Risk Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057519525 SCN2A Health Risk Likely pathogenic Focal epilepsy, SCN2A-related disorder
RS1057519526 SCN2A Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057519527 SCN2A Health Risk Likely pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057519528 SCN2A Health Risk Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057519529 SCN1A Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057519530 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1057519531 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS1057519533 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1057519534 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1057519535 KCNQ2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS1057519536 KCNQ2 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057519537 STXBP1 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057519538 STXBP1 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057519539 STXBP1 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057519540 SCN8A Health Risk Pathogenic/Likely pathogenic Epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1057519541 CDKL5 Health Risk Pathogenic Focal epilepsy, Focal epilepsy
RS1057519542 CDKL5 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS1057519543 MECP2 Health Risk Likely pathogenic Focal epilepsy, Rett syndrome
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