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
RS2543470895 PHKG2 Health Risk Pathogenic Glycogen storage disease IXc, Glycogen storage disease IXc
RS2543471112 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543472558 TP53 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2543472599 CTCF Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543472921 SLC12A3 Health Risk Pathogenic —
RS2543473065 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543473106 SLC12A3 Health Risk Pathogenic —
RS2543473192 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543473321 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543473366 DRC4 Health Risk Likely pathogenic Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS2543473385 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543473417 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543474089 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543474198 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543475089 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS2543475153 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2543475708 SLC12A3 Health Risk Pathogenic —
RS2543475783 SLC12A3 Health Risk Pathogenic —
RS2543475889 SLC12A3 Health Risk Pathogenic —
RS2543476037 SLC12A3 Health Risk Pathogenic —
RS2543476044 SLC12A3 Health Risk Pathogenic —
RS2543476096 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543476172 SLC12A3 Health Risk Likely pathogenic —
RS2543476674 SERPINF1 Health Risk Pathogenic —
RS2543477078 SERPINF1 Health Risk Pathogenic —
RS2543477717 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543477767 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543480089 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543480108 SLC12A3 Health Risk Likely pathogenic —
RS2543481405 SLC12A3 Health Risk Likely pathogenic —
RS2543481820 SLC12A3 Health Risk Pathogenic —
RS2543482001 SLC12A3 Health Risk Pathogenic —
RS2543482640 SERPINF1 Health Risk Pathogenic —
RS2543482778 SERPINF1 Health Risk Pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS2543483120 SERPINF1 Health Risk Pathogenic —
RS2543483331 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543483756 SLC12A3 Health Risk Pathogenic —
RS2543483865 SLC12A3 Health Risk Pathogenic —
RS2543483872 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543484844 CTCF Health Risk Pathogenic See cases, See cases
RS2543487324 SLC12A3 Health Risk Pathogenic —
RS2543487329 SLC12A3 Health Risk Pathogenic —
RS2543487699 SLC12A3 Health Risk Pathogenic —
RS2543488643 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543488957 SLC12A3 Health Risk Pathogenic —
RS2543489066 SLC12A3 Health Risk Pathogenic —
RS2543492881 SERPINF1 Health Risk Pathogenic —
RS2543494650 SERPINF1 Health Risk Pathogenic —
RS2543494977 SERPINF1 Health Risk Likely pathogenic Osteogenesis imperfecta type 6, Osteogenesis imperfecta type 6
RS2543497074 AMFR Health Risk Pathogenic —
RS2543499392 SLC12A3 Health Risk Likely pathogenic —
RS2543500511 AP1G1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2543500655 AP1G1 Health Risk Likely pathogenic Usmani-Riazuddin syndrome, autosomal dominant
RS2543502487 DNAAF4 Health Risk Pathogenic —
RS2543502957 SLC12A3 Health Risk Pathogenic —
RS2543503008 SLC12A3 Health Risk Pathogenic —
RS2543503132 SLC12A3 Health Risk Pathogenic —
RS2543504675 SLC12A3 Health Risk Pathogenic —
RS2543511781 SLC12A3 Health Risk Pathogenic —
RS2543511787 SLC12A3 Health Risk Likely pathogenic —
RS2543511911 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543515205 SLC12A3 Health Risk Likely pathogenic —
RS2543515261 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543515349 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543515354 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543515886 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543520086 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543520372 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543520411 AMFR Health Risk Pathogenic Spastic paraplegia 89, autosomal recessive
RS2543520412 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543520647 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543520799 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543521082 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543521233 SLC12A3 Health Risk Pathogenic —
RS2543521355 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543521676 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543522531 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543522617 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543523138 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543523215 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543523260 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543523300 SLC12A3 Health Risk Pathogenic —
RS2543524167 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543524584 TP53 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543525168 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS2543525337 GPHN Health Risk Pathogenic Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
RS2543525433 TP53 Health Risk Pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543526102 AP1G1 Health Risk Pathogenic Usmani-Riazuddin syndrome, autosomal recessive
RS2543526446 SLC12A3 Health Risk Pathogenic —
RS2543526958 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543527450 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543529459 TP53 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2543530106 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543530187 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543530263 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543530342 TP53 Health Risk Pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome
RS2543530416 TP53 Health Risk Likely pathogenic Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
RS2543531007 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS2543531562 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS2543531771 DPH1 Health Risk Conflicting classifications of pathogenicity Developmental delay with short stature, dysmorphic facial features
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