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: rs1057518834
rs1057518834
DMD
9 X 32849737 frameshift variant C/- delins 0.700 0
dbSNP: rs1568523935
rs1568523935
SLC25A42
20 0.776 0.240 19 19105656 stop gained C/G snv 0.700 0
dbSNP: rs398123383
rs398123383
LAMA2
4 1.000 0.120 6 129460287 stop gained C/T snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs267606640
rs267606640
AGL
5 0.882 0.120 1 99913557 stop gained G/A snv 5.6E-05 5.6E-05 0.010 1.000 1 2008 2008