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: rs587777433
rs587777433
1 1.000 5 131180149 missense variant G/A snv 0.800 1.000 1 2013 2013
dbSNP: rs869025602
rs869025602
1 1.000 5 131187113 splice region variant -/G delins 0.700 0
dbSNP: rs869025603
rs869025603
1 1.000 5 131187053 inframe insertion -/TTA delins 0.700 0
dbSNP: rs869025604
rs869025604
1 1.000 5 131187079 stop gained C/T snv 0.700 0
dbSNP: rs869025605
rs869025605
1 1.000 5 131180110 frameshift variant A/- delins 0.700 0