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: rs754130052
rs754130052
SUN5
1 1.000 20 32983868 missense variant G/A snv 3.3E-05 0.800 1.000 4 2016 2018
dbSNP: rs886041023
rs886041023
SUN5
1 1.000 20 32995668 missense variant A/G;T snv 0.800 1.000 4 2016 2018
dbSNP: rs886041024
rs886041024
SUN5
1 1.000 20 32985852 missense variant C/T snv 0.800 1.000 4 2016 2018
dbSNP: rs756459525
rs756459525
SUN5
1 1.000 20 32985809 missense variant G/A snv 2.4E-05 7.0E-06 0.800 0
dbSNP: rs758335571
rs758335571
SUN5
1 1.000 20 32983891 missense variant T/A;C snv 6.6E-05 0.700 0
dbSNP: rs781693813
rs781693813
SUN5
1 1.000 20 32997647 frameshift variant T/- delins 2.5E-04 4.2E-05 0.700 0
dbSNP: rs886041025
rs886041025
SUN5
1 1.000 20 32985782 stop gained G/C snv 0.700 0
dbSNP: rs772515844
rs772515844
SUN5
1 1.000 20 32995678 stop gained G/A snv 1.2E-05 1.4E-05 0.010 1.000 1 2018 2018