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: rs1555234799
rs1555234799
SGCG
1 1.000 0.200 13 23203827 frameshift variant A/- del 0.700 0
dbSNP: rs1555234810
rs1555234810
SGCG
1 1.000 0.200 13 23203880 stop gained G/A snv 0.700 0
dbSNP: rs797045106
rs797045106
SGCG
1 1.000 0.200 13 23203889 splice region variant AGTA/- delins 0.700 1.000 3 2002 2009
dbSNP: rs200502077
rs200502077
SGCG
1 1.000 0.200 13 23203890 splice donor variant G/C snv 1.6E-05 4.2E-05 0.700 1.000 1 2017 2017
dbSNP: rs143009120
rs143009120
SGCG
1 1.000 0.200 13 23234627 missense variant T/C snv 4.0E-06 0.700 1.000 3 1996 2018
dbSNP: rs1566011034
rs1566011034
SGCG
1 1.000 0.200 13 23234662 stop gained G/T snv 0.700 0
dbSNP: rs1555240119
rs1555240119
SGCG
1 1.000 0.200 13 23250628 splice acceptor variant A/C snv 0.700 0
dbSNP: rs200206447
rs200206447
SGCG
1 1.000 0.200 13 23250719 splice donor variant T/A;C;G snv 8.0E-06 0.700 0
dbSNP: rs913248720
rs913248720
SGCG
1 1.000 0.200 13 23279358 splice acceptor variant G/A snv 2.1E-05 0.700 0
dbSNP: rs786204786
rs786204786
SGCG
1 1.000 0.200 13 23295430 frameshift variant T/- delins 0.700 1.000 8 1995 2014
dbSNP: rs1555245353
rs1555245353
SGCG
1 1.000 0.200 13 23295488 splice donor variant G/C snv 0.700 0
dbSNP: rs754415994
rs754415994
SGCG ; LOC107984585
1 1.000 0.200 13 23320635 splice acceptor variant A/G snv 5.1E-06 0.700 0
dbSNP: rs547818652
rs547818652
SGCG ; LOC107984585
1 1.000 0.200 13 23320639 missense variant T/C snv 2.0E-05 1.4E-05 0.700 1.000 4 1998 2015
dbSNP: rs1555247973
rs1555247973
SGCG ; LOC107984585
1 1.000 0.200 13 23320644 frameshift variant -/C delins 0.700 0
dbSNP: rs875989949
rs875989949
SGCG ; LOC107984585
1 1.000 0.200 13 23320748 missense variant T/A;C snv 8.0E-06 0.700 0
dbSNP: rs1555248000
rs1555248000
SGCG ; LOC107984585
1 1.000 0.200 13 23320761 splice donor variant G/A;C snv 0.700 0
dbSNP: rs1555248289
rs1555248289
SGCG ; LOC107984585
1 1.000 0.200 13 23324384 frameshift variant A/- delins 0.700 1.000 1 2012 2012
dbSNP: rs758078849
rs758078849
SGCG ; LOC107984585
1 1.000 0.200 13 23324388 frameshift variant TG/- delins 0.700 0
dbSNP: rs886042749
rs886042749
SGCG ; LOC107984585
1 1.000 0.200 13 23324417 frameshift variant C/- del 0.700 1.000 3 1996 2012
dbSNP: rs1199421806
rs1199421806
SGCG ; LOC107984585
1 1.000 0.200 13 23324433 frameshift variant C/- del 4.0E-06 0.700 0
dbSNP: rs104894423
rs104894423
SGCG ; LOC107984585
1 1.000 0.200 13 23324452 missense variant G/A snv 3.2E-05 1.6E-04 0.700 1.000 6 2006 2017
dbSNP: rs780348174
rs780348174
SGCG ; LOC107984585
1 1.000 0.200 13 23324458 frameshift variant GT/- delins 0.700 1.000 3 1996 2014
dbSNP: rs104894422
rs104894422
SGCG ; LOC107984585
2 1.000 0.200 13 23324513 missense variant G/A snv 4.0E-06 0.830 1.000 10 1996 2018
dbSNP: rs769658853
rs769658853
DMD
1 1.000 0.200 X 32697928 missense variant T/C snv 0.010 1.000 1 1998 1998