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: rs1554066397
rs1554066397
SMN1 ; SMN2
7 0.925 0.080 5 70925108 missense variant C/G;T snv 0.700 1.000 1 1998 1998
dbSNP: rs1057516051
rs1057516051
DYSF
2 1.000 0.120 2 71660587 frameshift variant G/- delins 0.700 0
dbSNP: rs1131692158
rs1131692158
DYSF
5 1.000 0.120 2 71669207 missense variant G/A;C snv 0.700 0
dbSNP: rs140614802
rs140614802
ADSS1 ; LOC107984670
10 0.851 0.040 14 104741231 missense variant G/A snv 3.4E-05 2.8E-05 0.700 0
dbSNP: rs143570936
rs143570936
SGCA
5 0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 0.700 0
dbSNP: rs1563221666
rs1563221666
SFTPC
14 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0
dbSNP: rs757917335
rs757917335
DYSF
6 1.000 0.120 2 71611481 missense variant T/C snv 2.0E-05 0.700 0
dbSNP: rs763944786
rs763944786
RYR1
5 0.925 0.080 19 38469119 missense variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs781908532
rs781908532
SLC25A1
8 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.700 0
dbSNP: rs886039905
rs886039905
COL6A2
4 0.882 0.240 21 46125854 frameshift variant -/T delins 0.700 0