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: rs1057519464
rs1057519464
HEXA
7 0.925 0.160 15 72347711 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs121907966
rs121907966
HEXA
9 0.882 0.160 15 72345477 missense variant G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 1992 1992
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: rs786204585
rs786204585
HEXA
6 0.925 0.160 15 72344139 stop gained G/A snv 7.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1057519465
rs1057519465
HEXA
7 0.925 0.160 15 72346598 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1057519466
rs1057519466
HEXA
7 0.925 0.160 15 72346307 frameshift variant G/- del 0.700 0
dbSNP: rs1064795559
rs1064795559
MORC2
29 0.752 0.320 22 30946373 missense variant G/A snv 0.700 0
dbSNP: rs121907978
rs121907978
HEXA
7 0.925 0.160 15 72346296 missense variant C/G;T snv 0.700 0