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
RS2101633023 ADAMTSL4 Health Risk Pathogenic —
RS2101635447 DNAJC6 Health Risk Pathogenic Juvenile onset Parkinson disease 19A, Juvenile onset Parkinson disease 19A
RS2101637757 FLG Health Risk Pathogenic —
RS2101641171 ADAR Health Risk Pathogenic Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS2101641985 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2101642015 ADAR Health Risk Likely pathogenic Aicardi-Goutieres syndrome 6, Aicardi-Goutieres syndrome 6
RS2101642546 SF3B4 Health Risk Likely pathogenic —
RS2101644365 ADAR Health Risk Pathogenic Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS2101645916 ADAR Health Risk Pathogenic Symmetrical dyschromatosis of extremities, Aicardi-Goutieres syndrome 6
RS2101646017 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS2101646027 FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS2101647629 BSND Health Risk Pathogenic —
RS2101647663 SF3B4 Health Risk Pathogenic —
RS2101647799 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS2101648820 SF3B4 Health Risk Pathogenic Nager syndrome, Nager syndrome
RS2101651357 CCDST;FLG Health Risk Likely pathogenic Ichthyosis vulgaris, Ichthyosis vulgaris
RS2101652956 COL11A1 Health Risk Pathogenic —
RS2101653580 COL11A1 Health Risk Pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS2101653586 ADAMTSL4 Health Risk Likely pathogenic —
RS2101656625 RORC Health Risk Likely pathogenic Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
RS2101672500 CASQ1 Health Risk Conflicting classifications of pathogenicity —
RS2101678386 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2101678623 PBX1 Health Risk Pathogenic —
RS2101678782 COL11A1 Health Risk Likely pathogenic Autism, Neurodevelopmental delay
RS2101683875 COL11A1 Health Risk Pathogenic —
RS2101688490 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2101701634 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS2101705947 ATF6 Health Risk Likely pathogenic —
RS2101713372 NMNAT1 Health Risk Pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS2101730664 HFM1 Health Risk Pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS2101738598 NRAS Health Risk Likely pathogenic Noonan syndrome 6, Noonan syndrome 6
RS2101741276 SPTA1 Health Risk Likely pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2101742052 NRAS Health Risk Pathogenic RASopathy, Colorectal cancer
RS2101743991 NRAS Health Risk Likely pathogenic Noonan syndrome 6, Noonan syndrome 6
RS2101744255 NRAS Health Risk Likely pathogenic NRAS-related disorder, NRAS-related disorder
RS2101750154 COL11A1 Health Risk Likely pathogenic —
RS2101760572 SPTA1 Health Risk Likely pathogenic —
RS2101781113 SLC19A2 Health Risk Pathogenic —
RS2101782564 KCNN3 Health Risk Pathogenic Zimmermann-Laband syndrome 3, Zimmermann-Laband syndrome 3
RS2101787377 SLC19A2 Health Risk Likely pathogenic —
RS2101794024 COL11A1 Health Risk Likely pathogenic Hearing loss, autosomal dominant 37
RS2101800665 COL11A1 Health Risk Pathogenic/Likely pathogenic Hearing loss, autosomal dominant 37
RS2101804576 PEX19 Health Risk Pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS2101804905 PEX19 Health Risk Likely pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS2101810760 F5 Health Risk Pathogenic Factor V deficiency, Factor V deficiency
RS2101818393 F5 Health Risk Pathogenic Factor V deficiency, Factor V deficiency
RS2101818861 F5 Health Risk Likely pathogenic Factor V deficiency, Factor V deficiency
RS2101819646 SPTA1 Health Risk Likely pathogenic —
RS2101819850 F5 Health Risk Pathogenic Factor V deficiency, Factor V deficiency
RS2101820716 GORAB Health Risk Likely pathogenic —
RS2101821379 GORAB Health Risk Pathogenic —
RS2101821382 GORAB Health Risk Pathogenic —
RS2101829195 F5 Health Risk Pathogenic Factor V deficiency, Factor V deficiency
RS2101829513 SPTA1 Health Risk Likely pathogenic —
RS2101837157 SPTA1 Health Risk Likely pathogenic —
RS2101839185 CFAP45 Health Risk Pathogenic Heterotaxy, visceral
RS2101846610 PPOX Health Risk Pathogenic —
RS2101847449 CFAP45 Health Risk Pathogenic Heterotaxy, visceral
RS2101847465 COPA Health Risk Likely pathogenic Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS2101848342 CFAP45 Health Risk Pathogenic Heterotaxy, visceral
RS2101851488 PPOX Health Risk Likely pathogenic —
RS2101852537 COL11A1 Health Risk Likely pathogenic —
RS2101857591 SPTA1 Health Risk Pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS2101862742 PPOX Health Risk Pathogenic Hepatocellular carcinoma, Hepatocellular carcinoma
RS2101863458 PPOX Health Risk Pathogenic —
RS2101868872 SPTA1 Health Risk Likely pathogenic —
RS2101869722 COL11A1 Health Risk Pathogenic Stickler syndrome, Stickler syndrome
RS2101876357 GATAD2B Health Risk Pathogenic —
RS2101876868 PPOX Health Risk Pathogenic Variegate porphyria, childhood-onset
RS2101877463 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS2101877791 RBM8A Health Risk Pathogenic Radial aplasia-thrombocytopenia syndrome, Radial aplasia-thrombocytopenia syndrome
RS2101880713 GATAD2B Health Risk Pathogenic —
RS2101880773 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
RS2101881414 GATAD2B Health Risk Pathogenic —
RS2101882373 GATAD2B Health Risk Pathogenic —
RS2101886022 PPOX Health Risk Pathogenic —
RS2101886463 PPOX Health Risk Likely pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2101887841 NPHS2 Health Risk Pathogenic Nephrotic syndrome, type 2
RS2101889658 NCSTN Health Risk Pathogenic Acne inversa, familial
RS2101890460 COL11A1 Health Risk Likely pathogenic —
RS2101890748 COL11A1 Health Risk Likely pathogenic —
RS2101891457 GATAD2B Health Risk Pathogenic —
RS2101892539 SPTA1 Health Risk Likely pathogenic —
RS2101898546 PPOX Health Risk Pathogenic —
RS2101899012 NCSTN Health Risk Likely pathogenic —
RS2101899230 COL11A1 Health Risk Likely pathogenic —
RS2101900643 SPTA1 Health Risk Likely pathogenic SPTA1-related disorder, SPTA1-related disorder
RS2101901339 PPOX Health Risk Pathogenic —
RS2101902523 PPOX Health Risk Pathogenic Variegate porphyria, Variegate porphyria
RS2101904247 SPTA1 Health Risk Likely pathogenic —
RS2101906549 NCSTN Health Risk Pathogenic —
RS2101908951 SPTA1 Health Risk Pathogenic —
RS2101909450 NCSTN Health Risk Pathogenic Abnormality of the skin, Abnormality of the skin
RS2101916656 SPTA1 Health Risk Pathogenic —
RS2101919778 COL11A1 Health Risk Likely pathogenic —
RS2101924403 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2101936731 GLUL Health Risk Conflicting classifications of pathogenicity Glutamine synthetase stabilization disorder, Developmental and epileptic encephalopathy
RS2101942740 SPTA1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS2101946013 CTSK Health Risk Pathogenic Pyknodysostosis, Pyknodysostosis
RS2101946145 COL11A1 Health Risk Conflicting classifications of pathogenicity —
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