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
RS2077297994 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077300275 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077300688 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077310320 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS2077311774 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2077312042 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2077312113 LDLR Health Risk Likely pathogenic —
RS2077312268 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077313046 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077313770 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077314244 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2077315885 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS2077359932 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS2077361078 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS2077361365 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS2077361581 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS2077362782 LDLR Health Risk Pathogenic Familial type 3 hyperlipoproteinemia, Hypercholesterolemia
RS2077362818 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077364374 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2077368830 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2077377269 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077377560 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS2077379276 COL6A3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2077379376 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077385886 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077392348 ATP13A2 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS2077407494 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077408020 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077408827 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS2077409559 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077409930 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Hypercholesterolemia
RS2077410686 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2077411287 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2077412367 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077417709 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077419273 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077419354 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2077419716 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2077442468 COL6A3 Health Risk Pathogenic —
RS2077446835 ACAT1 Health Risk Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2077458389 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS2077459772 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077460481 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2077460968 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2077467203 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Nonpapillary renal cell carcinoma
RS2077467347 PHF6 Health Risk Likely pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2077467552 PHF6 Health Risk Pathogenic Borjeson-Forssman-Lehmann syndrome, Borjeson-Forssman-Lehmann syndrome
RS2077473508 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS2077475503 LDLR Health Risk Likely pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077475668 PHF6 Health Risk Likely pathogenic —
RS2077487643 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS2077495517 OPHN1 Health Risk Pathogenic —
RS2077499942 OPHN1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2077502210 OPHN1 Health Risk Likely pathogenic X-linked intellectual disability-cerebellar hypoplasia syndrome, X-linked intellectual disability-cerebellar hypoplasia syndrome
RS2077504269 PHF6 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS2077524382 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS2077524952 LDLR Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Familial hypercholesterolemia
RS2077527784 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2077532372 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
RS2077532634 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2077534283 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2077534379 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2077534881 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077537050 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2077537479 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2077539093 COL6A3 Health Risk Likely pathogenic —
RS2077566001 PCDH15 Health Risk Pathogenic —
RS2077579380 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS2077590197 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS2077594062 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2077595308 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS2077596325 LCT Health Risk Pathogenic LCT-related disorder, LCT-related disorder
RS2077606796 BRIP1 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2077607833 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS2077609103 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2077609211 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2077609777 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2077610488 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2077610620 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2077611091 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2077615673 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, HPRT CHICAGO
RS2077615719 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, HPRT COORPAROO
RS2077615821 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2077652014 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS2077659011 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS2077660035 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS2077660153 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS2077660217 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS2077662026 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS2077665118 GPHN Health Risk Likely pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2077667669 BRIP1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2077671871 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2077673385 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, HPRT CHERMSIDE
RS2077673537 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2077686564 LDLR Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS2077687093 HPRT1 Health Risk Pathogenic Lesch-Nyhan syndrome, Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
RS2077687102 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2077687660 HPRT1 Health Risk Pathogenic Partial hypoxanthine-guanine phosphoribosyltransferase deficiency, Lesch-Nyhan syndrome
RS2077688650 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS2077711392 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
« Prev 1 ... 1594 1595 1596 1597 1598 1599 1600 ... 4509 Next »

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

Get Started Free →