Source: BEFREE ×
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: rs121965021
rs121965021
IDUA
6 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.830 1.000 3 1992 2016
dbSNP: rs121965019
rs121965019
IDUA
4 0.851 0.120 4 1002747 stop gained G/A snv 5.9E-04 8.4E-04 0.740 1.000 4 1992 2014
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
4 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.740 1.000 4 1992 2013
dbSNP: rs991612107
rs991612107
IDUA
4 0.882 0.120 4 1002748 stop gained G/A snv 0.740 1.000 4 1996 2015
dbSNP: rs148789453
rs148789453
IDUA
3 0.882 0.120 4 1001802 missense variant T/A;G snv 2.2E-05; 4.4E-06 0.720 1.000 2 2004 2019
dbSNP: rs121965027
rs121965027
IDUA
1 0.882 0.120 4 1003102 missense variant T/C snv 7.0E-06 0.710 1.000 1 1995 2016
dbSNP: rs121965029
rs121965029
IDUA ; SLC26A1
2 0.851 0.120 4 987916 missense variant G/A snv 9.2E-06 7.0E-06 0.710 1.000 1 1996 1996
dbSNP: rs756572099
rs756572099
IDUA
1 1.000 0.120 4 1004313 stop gained C/G;T snv 2.0E-05 0.710 1.000 1 2001 2016
dbSNP: rs772416503
rs772416503
IDUA
1 0.882 0.120 4 1003120 missense variant C/G;T snv 1.4E-05 0.710 1.000 1 1995 2016
dbSNP: rs776787370
rs776787370
IDUA
1 1.000 0.120 4 1004027 stop gained C/G;T snv 1.6E-05 0.710 1.000 1 2011 2016
dbSNP: rs121965026
rs121965026
IDUA
1 0.925 0.120 4 1003108 missense variant G/A;C snv 0.010 1.000 1 1995 1995