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
RS1581075356 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1581078962 CTNND2 Health Risk Likely pathogenic —
RS1581088032 ADGRV1 Health Risk Likely pathogenic ADGRV1-related myoclonic epilepsy, ADGRV1-related myoclonic epilepsy
RS1581090174 DOCK2 Health Risk Pathogenic DOCK2 deficiency, DOCK2 deficiency
RS1581091469 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1581096271 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1581105631 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1581105705 CTNNA1 Health Risk Pathogenic —
RS1581105774 CTNNA1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1581105912 CTNNA1 Health Risk Pathogenic —
RS1581106084 RPL35A Health Risk Pathogenic Diamond-Blackfan anemia 5, Diamond-Blackfan anemia 5
RS1581108237 NKX2-5 Health Risk Likely pathogenic Atrial septal defect 7, Atrial septal defect 7
RS1581108437 NKX2-5 Health Risk Likely pathogenic —
RS1581109809 SPINK5 Health Risk Pathogenic —
RS1581111034 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS1581114957 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1581119386 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1581119469 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1581119680 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1581135405 ADGRV1 Health Risk Pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1581136492 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1581138487 TCOF1 Health Risk Pathogenic —
RS1581138932 SLC12A2 Health Risk Pathogenic; association Hearing loss, autosomal dominant 78
RS1581138934 SLC12A2 Health Risk Pathogenic Hearing loss, autosomal dominant 78
RS1581138944 SLC12A2 Health Risk Pathogenic; association Hearing loss, autosomal dominant 78
RS1581138965 SLC12A2 Health Risk Pathogenic Sensorineural hearing loss disorder, Sensorineural hearing loss disorder
RS1581159924 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1581160030 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1581160123 APC Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1581164936 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1581164958 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1581166539 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa 43
RS1581168117 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1581175017 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS1581177868 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1581178228 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1581178341 CTNNA1 Health Risk Pathogenic —
RS1581178748 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1581180469 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1581186849 PDE6A Health Risk Likely pathogenic Retinitis pigmentosa 43, Retinitis pigmentosa 43
RS1581190641 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1581196586 ADGRV1 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1581203344 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1581207094 GABRA1 Health Risk Likely pathogenic Epilepsy, childhood absence 4
RS1581209421 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1581210464 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1581211727 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1581217626 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1581220163 GABRA1 Health Risk Likely pathogenic Juvenile myoclonic epilepsy, Juvenile myoclonic epilepsy
RS1581220210 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS1581220270 GABRA1 Health Risk risk factor Epilepsy, childhood absence 4
RS1581222106 FBN2 Health Risk Likely pathogenic Marfanoid habitus and intellectual disability, Marfanoid habitus and intellectual disability
RS1581222180 FBN2 Health Risk Likely pathogenic —
RS1581223107 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1581223549 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS1581223990 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Marfan syndrome
RS1581224630 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1581224984 TCOF1 Health Risk Pathogenic —
RS1581226008 TCOF1 Health Risk Likely pathogenic —
RS1581226080 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1581230727 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS1581230766 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1581232733 SLC26A2 Health Risk Likely pathogenic Multiple epiphyseal dysplasia type 4, Diastrophic dysplasia
RS1581250307 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1581254366 NSD1 Health Risk Pathogenic —
RS1581257777 TFAP2A Health Risk Likely pathogenic —
RS1581262652 TFAP2A Health Risk Pathogenic Branchiooculofacial syndrome, Branchiooculofacial syndrome
RS1581262988 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1581263026 NPM1 Health Risk Pathogenic Acute myeloid leukemia with multilineage dysplasia, Acute myeloid leukemia with multilineage dysplasia
RS1581265561 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1581269752 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1581271844 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1581271869 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1581272003 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1581272834 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1581273254 NIPAL4 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1581278077 AFF4 Health Risk Conflicting classifications of pathogenicity Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
RS1581278124 POU4F3 Health Risk Conflicting classifications of pathogenicity —
RS1581278366 POU4F3 Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS1581280059 CSF1R Health Risk Likely pathogenic —
RS1581289103 CSF1R Health Risk Pathogenic Brain abnormalities, neurodegeneration
RS1581302068 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1581303476 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1581312596 ADGRV1 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1581314832 NSD1 Health Risk Pathogenic —
RS1581315609 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1581316964 NSD1 Health Risk Pathogenic —
RS1581318949 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1581319715 NSD1 Health Risk Pathogenic Beckwith-Wiedemann syndrome, Sotos syndrome
RS1581319867 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1581321362 MEF2C Health Risk Likely pathogenic —
RS1581321541 NSD1 Health Risk Pathogenic Sotos syndrome, Sotos syndrome
RS1581321573 NSD1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS1581323431 NSD1 Health Risk Pathogenic —
RS1581326628 NSD1 Health Risk Pathogenic —
RS1581338441 MEF2C Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS1581351046 GABRG2 Health Risk Pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS1581357507 ALDH7A1 Health Risk Likely pathogenic —
RS1581368665 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1581373410 FOXC1 Health Risk Pathogenic —
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