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
RS1557768952 ABCA4 Health Risk Pathogenic —
RS1557769782 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1557770132 ABCA4 Health Risk Pathogenic —
RS1557770154 ABCA4 Health Risk Conflicting classifications of pathogenicity Stargardt disease, Stargardt disease
RS1557770517 VWA1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1557772907 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1557773719 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1557776329 PPCS Health Risk Pathogenic Cardiomyopathy, dilated
RS1557778273 ABCA4 Health Risk Likely pathogenic —
RS1557778277 PPCS Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, dilated
RS1557778985 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1557781252 GATAD2B Health Risk Pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
RS1557783989 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS1557785499 ATP1A1 Health Risk Pathogenic Hypomagnesemia, seizures
RS1557785503 ATP1A1 Health Risk Pathogenic Hypomagnesemia, seizures
RS1557787212 PADI4 Health Risk association Rheumatoid arthritis, Rheumatoid arthritis
RS1557787473 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS1557787559 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Cone-rod dystrophy 3
RS1557787756 ABCA4 Health Risk Pathogenic maculopathy, Severe early-childhood-onset retinal dystrophy
RS1557791071 COL9A2 Health Risk Pathogenic —
RS1557792839 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1557793484 COL9A2 Health Risk Likely pathogenic —
RS1557794036 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1557794150 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1557794465 GDAP2 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 27
RS1557794919 DPM3 Health Risk Pathogenic DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
RS1557795571 ABCA4 Health Risk Pathogenic —
RS1557801639 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1557802165 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1557802353 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1557803353 NOTCH2 Health Risk Pathogenic —
RS1557804111 NOTCH2 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Alagille syndrome due to a NOTCH2 point mutation
RS1557804884 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS1557806222 SKI Health Risk Likely pathogenic Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS1557807153 NOTCH2 Health Risk Pathogenic —
RS1557810606 CLIC4 Health Risk Likely pathogenic Short stature, Short stature
RS1557812162 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1557812993 COL11A1 Health Risk Pathogenic Fibrochondrogenesis, Fibrochondrogenesis
RS1557813850 SELENON Health Risk Pathogenic/Likely pathogenic Congenital myopathy with fiber type disproportion, Eichsfeld type congenital muscular dystrophy
RS1557814050 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1557814066 SELENON Health Risk Pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS1557814123 SPOCD1 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS1557814141 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1557823855 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS1557825245 NOTCH2 Health Risk Likely pathogenic —
RS1557826721 NOTCH2 Health Risk Likely pathogenic —
RS1557832711 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1557836992 MUC1 Health Risk Pathogenic —
RS1557847904 COL11A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS1557852162 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1557852943 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
RS1557852998 DARS2 Health Risk Pathogenic/Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1557853625 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
RS1557853666 PEX19 Health Risk Likely pathogenic —
RS1557853919 DENND4B Health Risk Likely pathogenic Short stature, Short stature
RS1557855477 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS1557863430 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557863440 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557863546 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557863734 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS1557864817 DOCK7 Health Risk Pathogenic Developmental and epileptic encephalopathy, 23
RS1557865780 GPSM2 Health Risk Pathogenic —
RS1557865787 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1557866540 POGZ Health Risk Pathogenic/Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1557867134 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1557867853 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557868211 COPA Health Risk Pathogenic Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS1557870645 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557873824 POGZ Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557874046 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557877041 COL11A1 Health Risk Likely pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS1557878687 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1557880019 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1557880662 FLG Health Risk Pathogenic —
RS1557889974 GNB1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 42
RS1557891760 COL11A1 Health Risk Likely pathogenic —
RS1557894839 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS1557895416 PLA2G4A Health Risk Pathogenic Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
RS1557895715 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1557898800 GNB1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 42
RS1557901051 POGZ Health Risk Pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Inborn genetic diseases
RS1557901325 GBA1 Health Risk Pathogenic Gaucher disease, Gaucher disease
RS1557901347 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557901552 GBA1;LOC106627981 Health Risk Pathogenic Parkinson disease, late-onset
RS1557901999 PLA2G4A Health Risk Pathogenic Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder, Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
RS1557902023 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557904209 SERPINC1 Health Risk Likely pathogenic —
RS1557909170 POGZ Health Risk Pathogenic —
RS1557909572 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557909777 POGZ Health Risk Likely pathogenic Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1557909821 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557910161 PEX10 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder 6A (Zellweger)
RS1557910202 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS1557910651 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 6A (Zellweger), Peroxisome biogenesis disorder
RS1557910728 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557910873 POGZ Health Risk Pathogenic Neurodevelopmental disorder, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS1557911386 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557914199 LRIG2 Health Risk Likely pathogenic —
RS1557915380 F5 Health Risk Pathogenic Congenital factor V deficiency, Congenital factor V deficiency
RS1557916296 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
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