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
RS2135916511 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS2135916870 KIF11 Health Risk Pathogenic —
RS2135916921 KIF11 Health Risk Pathogenic —
RS2135917031 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135917229 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135917390 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, Inborn genetic diseases
RS2135917452 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135917561 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135918018 LRP6 Health Risk Pathogenic Tooth agenesis, selective
RS2135919112 KIF11 Health Risk Pathogenic —
RS2135919274 KIF11 Health Risk Pathogenic —
RS2135920313 EXPH5 Health Risk Pathogenic Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS2135920462 KIF11 Health Risk Likely pathogenic —
RS2135920743 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2135921186 STT3A Health Risk Likely pathogenic Congenital disorder of glycosylation, type Iw
RS2135923352 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2135923385 KIF11 Health Risk Pathogenic —
RS2135923421 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2135923456 KIF11 Health Risk Pathogenic —
RS2135923459 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2135923477 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2135923500 KIF11 Health Risk Pathogenic —
RS2135924347 EXPH5 Health Risk Pathogenic Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS2135924889 KIF11 Health Risk Pathogenic —
RS2135925063 FLI1 Health Risk Likely pathogenic Bleeding disorder, platelet-type
RS2135925601 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS2135925610 KIF11 Health Risk Pathogenic —
RS2135925949 KIF11 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2135926480 DHX37 Health Risk Likely pathogenic Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies, Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
RS2135926774 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135927478 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135927504 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135927905 EXPH5 Health Risk Pathogenic Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS2135927977 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135928197 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2135928495 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135928801 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS2135928904 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135929688 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135930082 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS2135930329 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2135936249 PHF21A Health Risk Pathogenic Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
RS2135938300 STT3A Health Risk Likely pathogenic Congenital disorder of glycosylation, type Iw
RS2135939447 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135939478 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135939533 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135940013 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135940147 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135940752 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135940951 PC Health Risk Likely pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135941091 KCNJ1 Health Risk Pathogenic Bartter disease type 2, Bartter disease type 2
RS2135941775 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135941811 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135941937 PC Health Risk Pathogenic Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS2135942244 ATP2B1 Health Risk Likely pathogenic Neurodevelopmental delay, Clubfoot
RS2135942891 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135943149 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135943275 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135944016 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135944112 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135944550 DHCR7 Health Risk Pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135944619 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135944782 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135945152 DHX37 Health Risk Likely pathogenic 46, XY sex reversal 11
RS2135945513 DHCR7 Health Risk Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135945639 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS2135946188 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135946371 PAN2 Health Risk Pathogenic/Likely pathogenic PAN2-related multiple congenital anomalies syndrome, DEVELOPMENTAL DELAY WITH VARIABLE CARDIAC AND RENAL CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
RS2135946592 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135947041 PCDH15 Health Risk Likely pathogenic —
RS2135947078 PCDH15 Health Risk Pathogenic —
RS2135947998 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135948486 POLE Health Risk Pathogenic —
RS2135949218 POLE Health Risk Likely pathogenic Colorectal cancer, susceptibility to
RS2135949491 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135949570 ATP2B1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2135954200 SUFU Health Risk Pathogenic/Likely pathogenic Gorlin syndrome, Medulloblastoma
RS2135956665 POLE Health Risk Pathogenic —
RS2135957798 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2135958616 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135958617 POLE Health Risk Likely pathogenic —
RS2135959437 SUFU Health Risk Likely pathogenic Familial meningioma, Familial meningioma
RS2135961598 POLE Health Risk Pathogenic —
RS2135962410 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135963070 RAP1B Health Risk Likely pathogenic See cases, Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
RS2135969134 POLE Health Risk Likely pathogenic —
RS2135969239 POLE Health Risk Pathogenic —
RS2135969291 POLE Health Risk Pathogenic —
RS2135971223 POLE Health Risk Pathogenic —
RS2135975361 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135975397 POLE Health Risk Pathogenic —
RS2135975662 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135975673 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135975734 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135976459 PFKM Health Risk Likely pathogenic Glycogen storage disease, type VII
RS2135976472 POLE Health Risk Likely pathogenic —
RS2135976833 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135976898 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135977126 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135977494 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
« Prev 1 ... 1775 1776 1777 1778 1779 1780 1781 ... 4509 Next »

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

Get Started Free →