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: rs1048379601
rs1048379601
DMD
2 X 31773986 missense variant T/C snv 1.9E-05 0.010 1.000 1 2000 2000
dbSNP: rs1064795077
rs1064795077
HSPB1
1 7 76303853 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs116840789
rs116840789
CAV3 ; SSUH2
6 0.925 0.080 3 8745547 missense variant G/A;T snv 0.010 1.000 1 2000 2000
dbSNP: rs1263071018
rs1263071018
CAV3 ; SSUH2
2 3 8745821 missense variant G/C snv 7.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs267606743
rs267606743
COL4A1
5 1.000 0.160 13 110192222 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs759411064
rs759411064
DAG1
2 3 49530915 missense variant C/G snv 4.0E-06 0.010 1.000 1 2000 2000
dbSNP: rs77938727
rs77938727
PGAM2 ; DBNL
2 1.000 0.160 7 44065240 missense variant C/T snv 1.3E-03 2.9E-04 0.010 1.000 1 1999 1999
dbSNP: rs80338792
rs80338792
SCN4A
7 0.827 0.160 17 63943846 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2015 2015