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
RS2480884226 FLT4 Health Risk Pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS2480886920 FLT4 Health Risk Likely pathogenic Hereditary lymphedema type I, Hereditary lymphedema type I
RS2480904044 FLT4 Health Risk Likely pathogenic —
RS2480922403 FLT4 Health Risk Likely pathogenic FLT4-related disorder, FLT4-related disorder
RS2480925588 VARS1 Health Risk Likely pathogenic —
RS2480933426 FLT4 Health Risk Likely pathogenic FLT4-related disorder, FLT4-related disorder
RS2480936022 CSF1R Health Risk Likely pathogenic Leukoencephalopathy, diffuse hereditary
RS2480949545 CSF1R Health Risk Likely pathogenic —
RS2480950041 CSF1R Health Risk Likely pathogenic Leukoencephalopathy, diffuse hereditary
RS2480966732 CSF1R Health Risk Pathogenic —
RS2480967878 CSF1R Health Risk Likely pathogenic —
RS2480978777 CSF1R Health Risk Pathogenic —
RS2480983963 FLT4 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS2481007195 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS2481008620 SLC34A1 Health Risk Likely pathogenic Hypophosphatemic nephrolithiasis/osteoporosis 1, Hypophosphatemic nephrolithiasis/osteoporosis 1
RS2481010061 SLC34A1 Health Risk Pathogenic —
RS2481014114 SLC34A1 Health Risk Pathogenic/Likely pathogenic Fanconi renotubular syndrome 2, Fanconi renotubular syndrome 2
RS2481014382 SLC34A1 Health Risk Pathogenic —
RS2481020701 CSF1R Health Risk Pathogenic —
RS2481021978 RUNX2 Health Risk Pathogenic —
RS2481024368 RUNX2 Health Risk Likely pathogenic Cleidocranial dysostosis, Cleidocranial dysostosis
RS2481024400 RUNX2 Health Risk Pathogenic —
RS2481024491 RUNX2 Health Risk Pathogenic RUNX2-related disorder, RUNX2-related disorder
RS2481024807 RUNX2 Health Risk Pathogenic —
RS2481025165 RUNX2 Health Risk Pathogenic —
RS2481025653 RUNX2 Health Risk Pathogenic —
RS2481026779 SLC34A1 Health Risk Pathogenic —
RS2481027322 CAP2 Health Risk Pathogenic Cardiomyopathy, dilated
RS2481034065 GEMIN5 Health Risk Likely pathogenic Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS2481034140 GEMIN5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2481036738 F12 Health Risk Pathogenic Factor XII deficiency disease, Factor XII deficiency disease
RS2481041341 H4C11 Health Risk Likely pathogenic Tessadori-van Haaften neurodevelopmental syndrome 2, Tessadori-van Haaften neurodevelopmental syndrome 2
RS2481043070 F12 Health Risk Likely pathogenic Factor XII deficiency disease, Factor XII deficiency disease
RS2481046868 PPP2CA Health Risk Pathogenic —
RS2481046871 PPP2CA Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2481046894 PPP2CA Health Risk Likely pathogenic PPP2CA-related disorder, PPP2CA-related disorder
RS2481048560 PPP2CA Health Risk Likely pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS2481048975 GEMIN5 Health Risk Likely pathogenic Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS2481049004 CSF1R Health Risk Pathogenic —
RS2481049607 CSF1R Health Risk Pathogenic —
RS2481049691 PPP2CA Health Risk Likely pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS2481050185 CSF1R Health Risk Likely pathogenic Brain abnormalities, neurodegeneration
RS2481050528 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2481051363 PPP2CA Health Risk Pathogenic Houge-Janssens syndrome 3, Houge-Janssens syndrome 3
RS2481058227 PPP2CA Health Risk Likely pathogenic —
RS2481078839 CNPY3 Health Risk Pathogenic Developmental and epileptic encephalopathy, 60
RS2481088488 CD2AP Health Risk Likely pathogenic Focal segmental glomerulosclerosis 3, susceptibility to
RS2481088704 CDSN Health Risk Likely pathogenic CDSN-related disorder, CDSN-related disorder
RS2481089559 CDSN Health Risk Likely pathogenic Peeling skin syndrome 1, Peeling skin syndrome 1
RS2481101671 PPP2CA Health Risk Likely pathogenic —
RS2481101940 PPP2CA Health Risk Pathogenic —
RS2481122799 GEMIN5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2481185664 PDGFRB Health Risk Likely pathogenic —
RS2481195709 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481196486 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481198087 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481198115 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481199616 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481199848 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481199869 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481200159 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481200515 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481202424 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481202482 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481202821 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481202893 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Zellweger spectrum disorders
RS2481202967 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481203023 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481203941 PDGFRB Health Risk Pathogenic/Likely pathogenic Basal ganglia calcification, idiopathic
RS2481205386 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481205811 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS2481205819 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481205835 PEX6 Health Risk Likely pathogenic —
RS2481207616 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481207693 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481207781 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481207905 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481207964 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481208048 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481208244 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481208620 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481208712 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481208884 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481208968 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481210117 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481210264 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481210415 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481210528 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Heimler syndrome 2
RS2481210846 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481211868 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481212042 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481216669 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481216714 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481217220 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
RS2481217571 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481217985 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481224131 PEX6 Health Risk Likely pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS2481224877 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481225669 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS2481225707 PEX6 Health Risk Likely pathogenic Heimler syndrome 2, Heimler syndrome 2
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