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
RS1567411469 TBC1D24 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 86, Autosomal dominant nonsyndromic hearing loss 65
RS1567412639 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1567412736 TBC1D24 Health Risk Pathogenic —
RS1567413218 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS1567413573 IFT140 Health Risk Pathogenic Renal cyst, Renal cyst
RS1567415157 CIITA Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1567415595 THOC6 Health Risk Likely pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS1567415819 THOC6 Health Risk Pathogenic/Likely pathogenic THOC6-related disorder, THOC6-related disorder
RS1567416845 THOC6 Health Risk Pathogenic THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
RS1567417422 CNOT1 Health Risk Pathogenic Holoprosencephaly sequence, Holoprosencephaly 12 with or without pancreatic agenesis
RS1567423240 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567423490 SLC12A3 Health Risk Pathogenic —
RS1567423904 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567426711 SLC12A3 Health Risk Pathogenic —
RS1567427651 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1567428094 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567430070 BBS4 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS1567432782 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567432890 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567437155 TSC2 Health Risk Pathogenic Lymphangiomyomatosis, Isolated focal cortical dysplasia type II
RS1567437393 SLC12A3 Health Risk Pathogenic —
RS1567437492 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567443039 MIR140 Health Risk Pathogenic Spondyloepiphyseal dysplasia MIR140 type Nishimura, Spondyloepiphyseal dysplasia
RS1567456901 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1567457100 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567457224 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS1567458244 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567462577 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567465730 ABCC6 Health Risk Pathogenic/Likely pathogenic Arterial calcification, generalized
RS1567467135 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567470707 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1567471351 CDH1 Health Risk Pathogenic —
RS1567476573 CETP Health Risk Pathogenic Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS1567479067 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 6
RS1567479117 IRF8 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
RS1567479853 ATP2A1 Health Risk Pathogenic/Likely pathogenic Brody myopathy, Brody myopathy
RS1567488305 GNAO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1567489890 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Cortical tubers
RS1567490884 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567490981 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567491395 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS1567494825 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Peripheral neuropathy
RS1567496821 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567497647 TSC2 Health Risk Likely pathogenic —
RS1567498041 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567498374 KARS1 Health Risk Pathogenic Sensorineural hearing loss disorder, Lactic acidosis
RS1567499068 SCAPER Health Risk Pathogenic 6 conditions, 6 conditions
RS1567501500 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1567502140 CDT1 Health Risk Pathogenic Meier-Gorlin syndrome 4, Meier-Gorlin syndrome 4
RS1567502487 LDHD Health Risk Likely pathogenic Lactic aciduria due to D-lactic acid, Abnormal circulating lactate dehydrogenase concentration
RS1567504268 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1567504468 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567504575 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1567504592 TSC2 Health Risk Pathogenic —
RS1567504752 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1567504890 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1567504977 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1567505776 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1567505832 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1567506511 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1567506566 CD19 Health Risk Pathogenic Immunodeficiency, common variable
RS1567506816 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1567507138 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1567507724 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1567507749 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1567507825 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1567508847 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1567508939 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1567508990 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS1567509070 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1567510728 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567510759 ZNF469 Health Risk Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1567510854 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1567511932 FOXF1 Health Risk Likely pathogenic Alveolar capillary dysplasia with pulmonary venous misalignment, Alveolar capillary dysplasia with pulmonary venous misalignment
RS1567512585 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1567512631 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1567513227 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, CDH1-related diffuse gastric and lobular breast cancer syndrome
RS1567515317 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1567515498 ZNF469 Health Risk Pathogenic —
RS1567516230 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Gastric cancer
RS1567516825 ZNF469 Health Risk Pathogenic/Likely pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1567517083 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1567517746 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1567517877 ZNF469 Health Risk Likely pathogenic —
RS1567518028 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567518954 - Health Risk Pathogenic Intestinal malrotation, Intestinal malrotation
RS1567519109 GALNS Health Risk Pathogenic GALNS-related disorder, GALNS-related disorder
RS1567519221 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1567520269 CDK10 Health Risk Pathogenic/Likely pathogenic Al Kaissi syndrome, Al Kaissi syndrome
RS1567521369 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567524236 TSC2 Health Risk Pathogenic —
RS1567524949 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567526805 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1567526941 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS1567528092 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, Intellectual developmental disorder 62
RS1567528487 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1567530426 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1567532079 DLG4 Health Risk Pathogenic —
RS1567532805 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1567533189 TSC2 Health Risk Pathogenic Autism spectrum disorder, Tuberous sclerosis syndrome
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