RS138943074 PAPSS2

Health Risk Chr 10:87715786 snv missense variant
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Associated Conditions
Spondyloepimetaphyseal dysplasia
PAPSS2 type
Inborn genetic diseases
Skeletal dysplasia
Spondyloepimetaphyseal dysplasia
PAPSS2 type
Inborn genetic diseases
Skeletal dysplasia
Population Frequencies
gnomAD ALL
0.1%
1kG AFR
100%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in PAPSS2
rs121908950 rs121908951 rs121908952 rs606231241 rs606231242 rs786200933 rs606231243 rs786200934 rs794727710 rs797045099
Ask Dr. Hemsworth about this variant