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: rs886039794
rs886039794
LRRCC1 ; LOC105375933
8 0.851 0.480 8 85109594 splice acceptor variant G/C snv 0.700 0
dbSNP: rs886039799
rs886039799
BBS9
17 0.763 0.320 7 33273896 frameshift variant C/- del 0.700 0
dbSNP: rs886039908
rs886039908
GPC3
5 0.925 0.360 X 133536175 frameshift variant A/- delins 0.700 0
dbSNP: rs387906309
rs387906309
HEXA
10 0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04 0.700 1.000 3 2012 2014
dbSNP: rs796051877
rs796051877
GAA
11 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015