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: rs551837344
rs551837344
SYNM
1 15 99129975 missense variant T/C snv 4.9E-05 0.010 1.000 1 2019 2019
dbSNP: rs10859313
rs10859313 		1 12 92411657 regulatory region variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs137853197
rs137853197
NEXN
3 0.925 0.040 1 77942756 missense variant A/G snv 7.2E-05 1.0E-04 0.700 1.000 1 2009 2009
dbSNP: rs1561703922
rs1561703922
DSP
1 6 7584830 frameshift variant ACAG/- delins 0.700 0
dbSNP: rs730880093
rs730880093
DSP
1 6 7583655 frameshift variant A/- del 0.700 0
dbSNP: rs869025399
rs869025399
DSP
1 6 7582986 frameshift variant A/- delins 0.700 0
dbSNP: rs727502994
rs727502994
DSP
1 6 7581565 splice donor variant -/AG delins 0.700 0
dbSNP: rs1554108431
rs1554108431
DSP
4 0.882 0.120 6 7581189 stop gained C/T snv 0.700 0
dbSNP: rs727503003
rs727503003
DSP
2 1.000 0.080 6 7581012 frameshift variant -/A delins 0.700 1.000 3 2010 2011
dbSNP: rs1554108287
rs1554108287
DSP
3 0.925 0.080 6 7580495 frameshift variant CACTG/- del 0.700 0
dbSNP: rs879255521
rs879255521
DSP
1 6 7580193 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs121912997
rs121912997
DSP
3 0.925 0.160 6 7579989 stop gained C/G;T snv 0.700 0
dbSNP: rs1554108152
rs1554108152
DSP
4 0.882 0.120 6 7579922 frameshift variant -/AAATCGA delins 0.700 0
dbSNP: rs727503001
rs727503001
DSP
2 1.000 0.080 6 7579820 stop gained T/A snv 0.700 0
dbSNP: rs148894066
rs148894066
DSP
1 6 7579697 stop gained C/A;T snv 1.4E-04 0.700 0
dbSNP: rs727503000
rs727503000
DSP
2 1.000 0.080 6 7579663 frameshift variant -/A delins 0.700 1.000 3 2010 2016
dbSNP: rs1554108012
rs1554108012
DSP
4 0.882 0.120 6 7579323 stop gained C/T snv 0.700 0
dbSNP: rs397516927
rs397516927
DSP
1 6 7577007 frameshift variant -/A delins 0.700 0
dbSNP: rs587782927
rs587782927
DSP
4 0.882 0.080 6 7574084 splice region variant AG/- delins 0.700 0
dbSNP: rs727505115
rs727505115
DSP
1 6 7572069 splice donor variant G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs727505077
rs727505077
DSP
1 6 7571432 frameshift variant A/- del 0.700 0
dbSNP: rs727504498
rs727504498
DSP
1 6 7570477 stop gained C/T snv 0.700 0
dbSNP: rs397516913
rs397516913
DSP
1 6 7567781 frameshift variant T/- delins 0.700 0
dbSNP: rs869025398
rs869025398
DSP
1 6 7567451 splice donor variant T/G snv 0.700 0
dbSNP: rs727504443
rs727504443
DSP
5 0.851 0.120 6 7565521 splice donor variant G/A snv 7.0E-06 0.700 1.000 6 1999 2014