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
RS2122132718 APOE Health Risk Pathogenic Familial type 3 hyperlipoproteinemia, Familial type 3 hyperlipoproteinemia
RS2122137937 APOE Health Risk Likely pathogenic Familial type 3 hyperlipoproteinemia, Familial type 3 hyperlipoproteinemia
RS2122139471 PAX1 Health Risk Likely pathogenic —
RS2122139711 PAX1 Health Risk Likely pathogenic Craniofacial microsomia, Craniofacial microsomia
RS2122142757 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2122142979 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2122143379 BCKDHA Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2122143393 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS2122146208 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2122146680 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2122194539 CEACAM16 Health Risk Likely pathogenic Ear malformation, Ear malformation
RS2122197253 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122202540 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122203804 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2122211012 APOC2 Health Risk Pathogenic APOLIPOPROTEIN C-II (TORONTO), Familial apolipoprotein C-II deficiency
RS2122219766 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2122220042 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2122220131 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2122223967 MKKS Health Risk Pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS2122226112 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2122229308 KIZ Health Risk Pathogenic —
RS2122232591 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2122232967 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122233990 MKKS Health Risk Pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS2122234051 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2122234387 MKKS Health Risk Pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS2122234652 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2122235204 MKKS Health Risk Likely pathogenic —
RS2122235362 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
RS2122235619 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2122236167 MKKS Health Risk Pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS2122236468 MKKS Health Risk Pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS2122243742 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122245228 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS2122245690 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy 1 with immunodeficiency, Polyglucosan body myopathy 1 with immunodeficiency
RS2122248224 FECH Health Risk Pathogenic —
RS2122250926 FECH Health Risk Pathogenic —
RS2122251187 FECH Health Risk Likely pathogenic —
RS2122268166 RBCK1 Health Risk Pathogenic/Likely pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency
RS2122268456 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy 1 without immunodeficiency
RS2122274245 ITPA Health Risk Likely pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS2122281705 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS2122282189 RBCK1 Health Risk Pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS2122284554 FECH Health Risk Pathogenic —
RS2122284871 FECH Health Risk Pathogenic —
RS2122290201 PRR12 Health Risk Pathogenic —
RS2122294765 PRR12 Health Risk Likely pathogenic complex microphthalmia, complex microphthalmia
RS2122296521 PRR12 Health Risk Likely pathogenic complex microphthalmia, complex microphthalmia
RS2122298859 PRR12 Health Risk Pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2122299732 PRR12 Health Risk Likely pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2122303487 PRR12 Health Risk Conflicting classifications of pathogenicity Neuroocular syndrome 1, Neuroocular syndrome 1
RS2122304074 PRR12 Health Risk Conflicting classifications of pathogenicity Neuroocular syndrome, Neuroocular syndrome
RS2122304134 PRR12 Health Risk Pathogenic —
RS2122309575 PRR12 Health Risk Pathogenic Neuroocular syndrome, Neuroocular syndrome
RS2122310534 KIZ Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2122311106 PRR12 Health Risk Pathogenic Neuroocular syndrome 1, Neuroocular syndrome 1
RS2122315348 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2122315641 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122317324 PNKP Health Risk Likely pathogenic —
RS2122319377 PNKP Health Risk Likely pathogenic —
RS2122319422 PNKP Health Risk Pathogenic Microcephaly, seizures
RS2122319491 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2122320829 FECH Health Risk Likely pathogenic —
RS2122322383 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122324210 PNKP Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS2122328391 ITPA Health Risk Likely pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS2122328682 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122329109 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2122329859 FECH Health Risk Pathogenic —
RS2122329969 PPP2R1A Health Risk Conflicting classifications of pathogenicity Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2122333424 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2122333654 RBCK1 Health Risk Pathogenic/Likely pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy type 1
RS2122334423 PPP2R1A Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2122334663 PPP2R1A Health Risk Pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2122334749 PNKP Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2B2, Charcot-Marie-Tooth disease type 2B2
RS2122336841 ARHGAP35 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2122337413 PPP2R1A Health Risk Pathogenic Houge-Janssens syndrome 2, Houge-Janssens syndrome 2
RS2122344493 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS2122346498 ITPA Health Risk Pathogenic/Likely pathogenic Inosine triphosphatase deficiency, Infantile epileptic dyskinetic encephalopathy
RS2122348874 RBCK1 Health Risk Likely pathogenic Polyglucosan body myopathy 1 without immunodeficiency, Polyglucosan body myopathy type 1
RS2122349615 RBCK1 Health Risk Pathogenic/Likely pathogenic Polyglucosan body myopathy type 1, Polyglucosan body myopathy 1 without immunodeficiency
RS2122350869 PPP2R1A Health Risk Conflicting classifications of pathogenicity —
RS2122357230 FECH Health Risk Likely pathogenic Protoporphyria, erythropoietic
RS2122359122 PRR12 Health Risk Pathogenic —
RS2122360528 PPP2R1A Health Risk Conflicting classifications of pathogenicity —
RS2122376439 BMP2 Health Risk Pathogenic —
RS2122376594 TGM6 Health Risk Pathogenic Spinocerebellar ataxia type 35, Spinocerebellar ataxia type 35
RS2122376761 PRR12 Health Risk Pathogenic/Likely pathogenic complex microphthalmia, Neuroocular syndrome 1
RS2122377023 BMP2 Health Risk Pathogenic —
RS2122386880 FECH Health Risk Pathogenic —
RS2122389370 POLD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS2122390232 PRR12 Health Risk Conflicting classifications of pathogenicity Neuroocular syndrome, Neuroocular syndrome 1
RS2122390899 BMP2 Health Risk Pathogenic —
RS2122396524 ITPA Health Risk Pathogenic/Likely pathogenic Inosine triphosphatase deficiency, Developmental and epileptic encephalopathy
RS2122409537 TGM6 Health Risk Conflicting classifications of pathogenicity —
RS2122429764 FTL Health Risk Likely pathogenic Hereditary hyperferritinemia with congenital cataracts, Neuroferritinopathy
RS2122429855 FTL Health Risk Likely pathogenic Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts
RS2122429938 NARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, impaired language
RS2122431077 NARS1 Health Risk Likely pathogenic Neurodevelopmental disorder with microcephaly, impaired language
RS2122436083 FTL Health Risk Pathogenic Neuroferritinopathy, Hereditary hyperferritinemia with congenital cataracts
« Prev 1 ... 1696 1697 1698 1699 1700 1701 1702 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →