RS104893915 SLC26A2

Health Risk Chr 5:149980427 snv missense variant
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What This Variant Does
"rs104893915, also known as c.835C&gt
Associated Conditions
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
SLC26A2-related disorder
Sulfate transporter-related osteochondrodysplasia
Inborn genetic diseases
Achondrogenesis
type IB
3MC syndrome 2
Connective tissue disorder
Atelosteogenesis type II
Diastrophic dysplasia
Multiple epiphyseal dysplasia type 4
SLC26A2-related disorder
Sulfate transporter-related osteochondrodysplasia
Population Frequencies
gnomAD ALL
0.1%
1kG AFR
100%
1kG ALL
0.1%
1kG AMR
99.6%
1kG EAS
100%
1kG EUR
0.4%
1kG SAS
100%
Other Variants in SLC26A2
rs386833498 rs786200881 rs104893917 rs104893918 rs104893919 rs104893920 rs104893916 rs104893921 rs386833492 rs104893924
Ask Dr. Hemsworth about this variant