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: rs7116432
rs7116432
CD44
2 1.000 0.080 11 35222511 3 prime UTR variant A/G snv 0.34 0.700 1.000 1 2014 2014
dbSNP: rs759330
rs759330
BGLAP ; PAQR6 ; PMF1-BGLAP
1 1.000 0.080 1 156243466 3 prime UTR variant G/A snv 0.75 0.700 1.000 1 2014 2014
dbSNP: rs139024319
rs139024319
IDUA ; SLC26A1
1 1.000 0.080 4 991150 missense variant G/A snv 2.5E-04 1.6E-04 0.700 1.000 1 2016 2016
dbSNP: rs142573758
rs142573758
IDUA ; SLC26A1
1 1.000 0.080 4 991538 missense variant C/T snv 5.6E-04 6.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs148832260
rs148832260
IDUA ; SLC26A1
1 1.000 0.080 4 989866 missense variant G/A snv 2.8E-04 3.1E-04 0.700 1.000 1 2016 2016