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: 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: rs121907972
rs121907972
HEXA
6 0.925 0.160 15 72353130 missense variant G/A snv 8.0E-06 1.4E-05 0.700 1.000 1 2012 2012
dbSNP: rs773446161
rs773446161
HEXA
7 0.925 0.160 15 72356555 stop gained G/A snv 4.0E-06 0.700 1.000 1 1997 1997
dbSNP: rs1057519465
rs1057519465
HEXA
7 0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs121907978
rs121907978
HEXA
7 0.925 0.160 15 72346296 missense variant C/G;T snv 0.700 0
dbSNP: rs752298579
rs752298579
TANGO2
48 0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 0.700 0