Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199473704
rs199473704
0.882 0.080 17 3524224 missense variant C/A;T snv
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome
0.840 1.000 4 2012 2018
dbSNP: rs199473705
rs199473705
1.000 17 3518587 missense variant A/C snv
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome
0.810 1.000 3 2012 2017
dbSNP: rs786205868
rs786205868
1.000 17 3518644 missense variant G/A snv
CUI: C2609071
Disease: Olmsted syndrome
Olmsted syndrome
0.700 0