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: 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 2016
dbSNP: rs121965020
rs121965020
IDUA ; SLC26A1
4 0.827 0.280 4 987858 stop gained C/T snv 4.7E-04 6.1E-04 0.730 1.000 3 1992 2014
dbSNP: rs121965021
rs121965021
IDUA
6 0.807 0.320 4 1003418 missense variant C/G;T snv 5.6E-05 0.730 1.000 3 1992 2016
dbSNP: rs754966840
rs754966840
IDUA ; SLC26A1
1 0.925 0.120 4 987915 missense variant C/T snv 1.4E-05 0.710 1.000 1 1995 2014
dbSNP: rs991612107
rs991612107
IDUA
4 0.882 0.120 4 1002748 stop gained G/A snv 0.040 1.000 4 1992 2004
dbSNP: rs121907953
rs121907953
HEXA
3 0.851 0.160 15 72353106 missense variant G/A snv 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs267606862
rs267606862
HEXA
2 0.882 0.160 15 72346681 stop gained C/T snv 0.010 1.000 1 2017 2017