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
RS2145425648 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145426686 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145426726 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS2145426865 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145426900 STK11 Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2145426910 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145426930 STK11 Health Risk Pathogenic Melanoma, cutaneous malignant
RS2145427067 STK11 Health Risk Pathogenic Germ cell tumor of testis, Germ cell tumor of testis
RS2145427244 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145427312 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145427564 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145428243 ASXL3 Health Risk Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145428329 AP1G1 Health Risk Likely pathogenic —
RS2145428724 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145428733 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145428787 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145428869 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145428911 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145429029 EFTUD2 Health Risk Likely pathogenic —
RS2145429370 ASXL3 Health Risk Pathogenic/Likely pathogenic —
RS2145429508 NOTCH3 Health Risk Likely pathogenic —
RS2145429665 GPI Health Risk Likely pathogenic Hemolytic anemia due to glucophosphate isomerase deficiency, Hemolytic anemia due to glucophosphate isomerase deficiency
RS2145429823 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145430033 C3 Health Risk Conflicting classifications of pathogenicity —
RS2145430551 STK11 Health Risk Pathogenic —
RS2145430591 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145430693 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145430705 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145430763 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Marshall-Smith syndrome
RS2145430878 RTEL1 Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2145430921 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2145430970 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145431059 ASXL3 Health Risk Pathogenic —
RS2145431062 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145431392 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145431441 STK11 Health Risk Pathogenic Peutz-Jeghers syndrome, Gastric cancer
RS2145431518 EFTUD2 Health Risk Conflicting classifications of pathogenicity —
RS2145431524 EFTUD2 Health Risk Likely pathogenic —
RS2145431569 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2145431661 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145432198 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145432318 ASXL3 Health Risk Pathogenic/Likely pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145432499 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2145432885 NFIX Health Risk Pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS2145432917 BCAS3 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Hengel-Maroofian-Schols syndrome
RS2145433000 NOTCH3 Health Risk Pathogenic —
RS2145433024 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145433134 PIGT Health Risk Likely pathogenic —
RS2145433190 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145433195 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2145433298 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145433361 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2145433524 ASXL3 Health Risk Pathogenic Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
RS2145434233 NOTCH3 Health Risk Pathogenic —
RS2145434432 NOTCH3 Health Risk Likely pathogenic —
RS2145434598 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2145434841 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS2145434878 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2145434937 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2145434954 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145435730 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS2145435791 STK11 Health Risk Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS2145436195 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS2145436403 NOTCH3 Health Risk Pathogenic —
RS2145436468 NOTCH3 Health Risk Pathogenic —
RS2145436814 C3 Health Risk Conflicting classifications of pathogenicity C3 glomerulonephritis, C3 glomerulonephritis
RS2145437046 NOTCH3 Health Risk Pathogenic/Likely pathogenic NOTCH3-related disorder, NOTCH3-related disorder
RS2145438216 C3 Health Risk Pathogenic —
RS2145438293 EFTUD2 Health Risk Pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
RS2145439154 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS2145439776 NOTCH3 Health Risk Pathogenic —
RS2145439777 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
RS2145439810 NOTCH3 Health Risk Pathogenic —
RS2145439818 NOTCH3 Health Risk Likely pathogenic —
RS2145440883 NOTCH3 Health Risk Pathogenic/Likely pathogenic Cerebral arteriopathy, autosomal dominant
RS2145441541 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
RS2145441610 NOTCH3 Health Risk Pathogenic —
RS2145441707 NOTCH3 Health Risk Pathogenic Cerebral arteriopathy, autosomal dominant
RS2145441901 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS2145441996 NOTCH3 Health Risk Likely pathogenic —
RS2145441998 NOTCH3 Health Risk Likely pathogenic —
RS2145442191 NOTCH3 Health Risk Pathogenic/Likely pathogenic —
RS2145442806 NFIX Health Risk Likely pathogenic Marshall-Smith syndrome, Marshall-Smith syndrome
RS2145443002 NFIX Health Risk Pathogenic Malan overgrowth syndrome, Malan overgrowth syndrome
RS2145443048 NOTCH3 Health Risk Likely pathogenic —
RS2145443364 NOTCH3 Health Risk Pathogenic —
RS2145443452 NOTCH3 Health Risk Likely pathogenic Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
RS2145443744 NOTCH3 Health Risk Pathogenic/Likely pathogenic —
RS2145443955 NOTCH3 Health Risk Pathogenic —
RS2145445706 RTEL1 Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145446753 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145446953 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145447627 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145447716 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145447772 RYR1 Health Risk Likely pathogenic Malignant hyperthermia of anesthesia, RYR1-related disorder
RS2145447827 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS2145447843 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS2145448526 RTEL1 Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 5
RS2145450794 PIGT Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2145455322 EFTUD2 Health Risk Likely pathogenic Mandibulofacial dysostosis-microcephaly syndrome, Mandibulofacial dysostosis-microcephaly syndrome
« Prev 1 ... 1858 1859 1860 1861 1862 1863 1864 ... 4509 Next »

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

Get Started Free →