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: rs137852557
rs137852557
SHOX
2 0.925 0.120 Y 640836 missense variant C/T snv 0.800 1.000 1 2002 2002
dbSNP: rs397514461
rs397514461
SHOX
5 0.827 0.200 Y 640842 missense variant G/C snv 0.710 1.000 1 2011 2011
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs137852556
rs137852556
SHOX
2 0.925 0.120 Y 640851 missense variant C/T snv 0.010 1.000 1 2004 2004