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: rs587777874
rs587777874
RAB39B
1 1.000 0.200 X 155260942 missense variant G/T snv 0.800 1.000 3 2014 2015
dbSNP: rs864309527
rs864309527
RAB39B
2 0.925 0.200 X 155260871 missense variant C/T snv 0.800 1.000 3 2014 2015
dbSNP: rs59897026
rs59897026
KRT13
2 0.925 0.200 17 41505219 missense variant A/G snv 0.010 1.000 1 2015 2015
dbSNP: rs912601230
rs912601230
KRT13
1 1.000 0.200 17 41505219 frameshift variant -/G delins 0.010 1.000 1 2015 2015