SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS869312436 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS869312437 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS869312438 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS869312439 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS869312440 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS869312441 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS869312442 GLA Health Risk Likely pathogenic Fabry disease, Cardiovascular phenotype
RS869312444 GLA Health Risk Pathogenic Fabry disease, Thyroid cancer
RS869312445 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS869312446 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS869312448 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS869312449 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS869312450 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS869312451 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS869312452 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS869312454 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS869312455 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS869312456 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS869312458 GLA Health Risk Pathogenic GLA-related disorder, Fabry disease
RS869312463 MT-ND1;MT-TL1 Health Risk Likely pathogenic MELAS syndrome, Mitochondrial disease
RS869312464 PIKFYVE Health Risk Pathogenic Fleck corneal dystrophy, Fleck corneal dystrophy
RS869312660 HDAC8 Health Risk Likely pathogenic Cornelia de Lange syndrome 5, Cornelia de Lange syndrome 5
RS869312661 WDR45 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS869312662 ARX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS869312663 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS869312664 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS869312666 MTOR Health Risk Pathogenic/Likely pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS869312667 NBEA Health Risk Likely pathogenic —
RS869312668 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS869312669 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS869312670 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS869312671 MTOR Health Risk Pathogenic Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
RS869312672 SMC3 Health Risk Likely pathogenic Cornelia de Lange syndrome 3, De Lange syndrome
RS869312673 SLC2A1 Health Risk Pathogenic GLUT1 deficiency syndrome 1, autosomal recessive
RS869312674 SYNGAP1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 5
RS869312676 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS869312677 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS869312678 TCF20 Health Risk Pathogenic —
RS869312681 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
RS869312682 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS869312684 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS869312685 ITPR1 Health Risk Likely pathogenic Spinocerebellar ataxia type 15/16, Spinocerebellar ataxia type 29
RS869312686 HCFC1 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblX
RS869312687 RIT1 Health Risk Pathogenic Noonan syndrome 8, Hypertelorism
RS869312689 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS869312690 SCN8A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 13
RS869312692 DDX3X Health Risk Pathogenic Intellectual disability, X-linked 102
RS869312693 DYNC1H1 Health Risk Pathogenic Intellectual disability, autosomal dominant 13
RS869312694 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS869312696 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
RS869312697 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS869312698 MEF2C Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS869312700 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS869312701 HNRNPU Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 54
RS869312702 DNM1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 31A
RS869312703 KDM5B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS869312704 TBR1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Intellectual disability
RS869312705 CHD2 Health Risk Pathogenic Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS869312707 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
RS869312708 DYRK1A Health Risk Pathogenic/Likely pathogenic DYRK1A-related intellectual disability syndrome, DYRK1A-related intellectual disability syndrome
RS869312709 CTR9 Health Risk Conflicting classifications of pathogenicity CTR9-related neurodevelopmental disorder, CTR9-related neurodevelopmental disorder
RS869312711 KIF1A Health Risk Pathogenic Intellectual disability, autosomal dominant 9
RS869312712 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS869312713 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS869312714 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS869312718 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS869312721 FERMT1 Health Risk Pathogenic Kindler syndrome, Kindler syndrome
RS869312723 FERMT1 Health Risk Likely pathogenic Kindler syndrome, Kindler syndrome
RS869312726 FERMT1 Health Risk Likely pathogenic Abnormality of the skin, Abnormality of the skin
RS869312731 FERMT1 Health Risk Likely pathogenic Kindler syndrome, Kindler syndrome
RS869312732 LIM2 Health Risk Pathogenic Cataract 19 multiple types, Cataract 19 multiple types
RS869312733 TMEM98 Health Risk Pathogenic Nanophthalmos 4, Nanophthalmos 4
RS869312734 TMEM98 Health Risk Pathogenic Nanophthalmos 4, Nanophthalmos 4
RS869312739 ACTA1 Health Risk Pathogenic Progressive scapulohumeroperoneal distal myopathy, Actin accumulation myopathy
RS869312740 MYO18B Health Risk Pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Nemaline myopathy
RS869312741 SMG9 Health Risk Likely pathogenic Heart and brain malformation syndrome, Brainstem dysplasia
RS869312742 SMG9 Health Risk Conflicting classifications of pathogenicity Heart and brain malformation syndrome, Abnormal facial shape
RS869312743 FGD1 Health Risk Conflicting classifications of pathogenicity Aarskog syndrome, Aarskog syndrome
RS869312746 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS869312747 NPHS2 Health Risk Likely pathogenic Nephrotic syndrome, type 2
RS869312748 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS869312749 S1PR2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 68, Autosomal recessive nonsyndromic hearing loss 68
RS869312750 S1PR2 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 68, Autosomal recessive nonsyndromic hearing loss 68
RS869312751 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS869312752 GLRX5 Health Risk Pathogenic Sideroblastic anemia 3, Sideroblastic anemia 3
RS869312753 APC Health Risk Pathogenic Colorectal cancer, susceptibility to
RS869312754 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS869312755 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS869312756 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS869312757 BAP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS869312758 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS869312759 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869312760 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS869312762 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS869312763 BRIP1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS869312765 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS869312766 CTNNA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS869312767 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS869312768 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS869312769 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
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