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
RS1553192091 ATP1A1 Health Risk Likely pathogenic Charcot-Marie-tooth disease, axonal
RS1553192420 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1553192432 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1553192682 ABCA4 Health Risk Pathogenic/Likely pathogenic Macular dystrophy, Retinal dystrophy
RS1553192715 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1553192718 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553192726 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1553192783 ATP1A1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-tooth disease, axonal
RS1553193463 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553193485 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1553193486 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553193507 NOTCH2 Health Risk Pathogenic/Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1553193524 NOTCH2 Health Risk Pathogenic —
RS1553193529 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553193530 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1553193574 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1553193813 ABCA4 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 3
RS1553193910 COL11A1 Health Risk Pathogenic/Likely pathogenic Marshall syndrome, Stickler syndrome type 2
RS1553193913 COL11A1 Health Risk Likely pathogenic —
RS1553193977 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1553194093 NOTCH2 Health Risk Pathogenic —
RS1553194155 GNB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 42
RS1553194162 GNB1 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1553194472 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1553195472 ABCA4 Health Risk Likely pathogenic Macular dystrophy, Macular dystrophy
RS1553195867 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS1553195973 NOTCH2 Health Risk Pathogenic —
RS1553196068 ALX3 Health Risk Likely pathogenic Frontorhiny, Frontorhiny
RS1553196096 CDC42 Health Risk Pathogenic Postnatal growth retardation, Neurodevelopmental abnormality
RS1553196100 CDC42 Health Risk Likely pathogenic Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Abnormality of the immune system
RS1553196101 CDC42 Health Risk Pathogenic Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Neurodevelopmental abnormality
RS1553196119 CDC42 Health Risk Likely pathogenic —
RS1553196134 CDC42 Health Risk Pathogenic Neurodevelopmental abnormality, Postnatal growth retardation
RS1553196233 COL11A1 Health Risk Likely pathogenic Hearing impairment, Hearing loss
RS1553196515 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS1553196539 CDC42 Health Risk Pathogenic Noonan-like syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
RS1553196583 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS1553196764 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1553196900 CTSK Health Risk Pathogenic/Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1553196906 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1553196934 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1553196945 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1553197230 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1553197239 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1553197262 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS1553197926 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1553197939 CASQ2 Health Risk Pathogenic/Likely pathogenic Wolff-Parkinson-White pattern, Catecholaminergic polymorphic ventricular tachycardia 1
RS1553198611 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1553199298 NOTCH2 Health Risk Pathogenic —
RS1553199845 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS1553200134 NOTCH2 Health Risk Pathogenic —
RS1553200431 COL11A1 Health Risk Likely pathogenic 8 conditions, 8 conditions
RS1553200766 DARS2 Health Risk Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1553200868 COL11A1 Health Risk Pathogenic —
RS1553200990 NPHP4 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 4, Nephronophthisis
RS1553201258 DARS2 Health Risk Pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Dysmetria
RS1553201443 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1553201476 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1553201582 SLC35A3 Health Risk Likely pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1553202301 NOTCH2 Health Risk Likely pathogenic —
RS1553202681 DARS2 Health Risk Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1553203137 SLC35A3 Health Risk Conflicting classifications of pathogenicity Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS1553204327 DARS2 Health Risk Pathogenic —
RS1553204817 SELENBP1 Health Risk Likely pathogenic Extra oral halitosis, Extraoral halitosis due to methanethiol oxidase deficiency
RS1553204840 SELENBP1 Health Risk Likely pathogenic Extra oral halitosis, Extraoral halitosis due to methanethiol oxidase deficiency
RS1553207540 ADAR Health Risk Likely pathogenic Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6
RS1553208520 SLC16A1 Health Risk Pathogenic —
RS1553209362 PSMB4 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 3, Proteasome-associated autoinflammatory syndrome 3
RS1553209373 PSMB4 Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 1, Proteasome-associated autoinflammatory syndrome 1
RS1553210405 NCSTN Health Risk Conflicting classifications of pathogenicity Acne inversa, familial
RS1553210984 NCSTN Health Risk Pathogenic Acne inversa, familial
RS1553211087 NCSTN Health Risk Pathogenic Acne inversa, familial
RS1553211362 FLG Health Risk Pathogenic —
RS1553211449 ADAR Health Risk Pathogenic —
RS1553211899 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS1553212090 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1553212204 POGZ Health Risk Likely pathogenic —
RS1553212374 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1553212545 POGZ Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1553212596 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1553212626 POGZ Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553212757 POGZ Health Risk Pathogenic —
RS1553212868 POGZ Health Risk Likely pathogenic 17 conditions, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1553212978 POGZ Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553213060 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1553213126 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1553213136 FLG Health Risk Pathogenic —
RS1553213240 POGZ Health Risk Pathogenic —
RS1553213268 POGZ Health Risk Pathogenic —
RS1553213659 POGZ Health Risk Pathogenic —
RS1553215684 GPSM2 Health Risk Likely pathogenic —
RS1553216467 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1553216524 GPSM2 Health Risk Pathogenic Chudley-McCullough syndrome, Chudley-McCullough syndrome
RS1553216985 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS1553217009 GBA1 Health Risk Likely pathogenic Gaucher disease, Parkinson disease
RS1553217294 GBA1 Health Risk Likely pathogenic Gaucher disease, 7 conditions
RS1553217314 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS1553217626 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS1553217879 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS1553217946 GBA1 Health Risk Pathogenic Gaucher disease type I, Gaucher disease type I
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