Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28377268
rs28377268
PTCH1 ; LOC100507346
2 0.925 0.080 9 95462774 intron variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs3755955
rs3755955
IDUA
4 0.925 0.080 4 1000626 missense variant G/A;C snv 0.16; 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs6831280
rs6831280
IDUA
4 0.925 0.080 4 1002377 missense variant G/A;C snv 0.17 0.010 1.000 1 2019 2019