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: rs398123275
rs398123275
MTM1
1 1.000 0.080 X 150596504 stop gained C/T snv 0.700 1.000 2 1997 2010
dbSNP: rs672601324
rs672601324
MTM1
1 1.000 0.080 X 150645682 splice acceptor variant G/A snv 0.700 1.000 2 1997 1999
dbSNP: rs797045715
rs797045715
MTM1
1 1.000 0.080 X 150659750 splice donor variant AACAGGTAA/- delins 0.700 1.000 2 1997 1999
dbSNP: rs1057516031
rs1057516031
MTM1
3 1.000 0.080 X 150598681 stop gained G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs132630302
rs132630302
MTM1
1 1.000 0.080 X 150641306 missense variant A/G snv 0.800 1.000 1 2012 2012
dbSNP: rs132630303
rs132630303
MTM1
1 1.000 0.080 X 150657957 missense variant A/G snv 0.800 1.000 1 2012 2012
dbSNP: rs132630305
rs132630305
MTM1
1 1.000 0.080 X 150645725 missense variant C/T snv 0.800 1.000 1 2012 2012
dbSNP: rs132630307
rs132630307
MTM1
1 1.000 0.080 X 150638967 missense variant G/A snv 0.800 1.000 1 2012 2012
dbSNP: rs587783826
rs587783826
MTM1
1 1.000 0.080 X 150619126 frameshift variant T/- del 0.700 1.000 1 2011 2011
dbSNP: rs587783838
rs587783838
MTM1
1 1.000 0.080 X 150641315 missense variant A/G snv 0.700 1.000 1 2010 2010
dbSNP: rs1557413092
rs1557413092
MTM1
1 1.000 0.080 X 150614700 splice donor variant G/A snv 0.700 0
dbSNP: rs1557413783
rs1557413783
MTM1
1 1.000 0.080 X 150638963 frameshift variant T/- del 0.700 0
dbSNP: rs1557414513
rs1557414513
MTM1
1 1.000 0.080 X 150657943 frameshift variant -/T delins 0.700 0
dbSNP: rs1569565497
rs1569565497
MTM1
1 1.000 0.080 X 150641333 missense variant A/C snv 0.700 0
dbSNP: rs34119065
rs34119065
MTM1
1 1.000 0.080 X 150671572 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs397518445
rs397518445
MTM1
1 1.000 0.080 X 150659654 intron variant A/G snv 0.700 0
dbSNP: rs398123274
rs398123274
MTM1
1 1.000 0.080 X 150645692 missense variant T/C snv 0.700 0
dbSNP: rs587783750
rs587783750
MTM1
1 1.000 0.080 X 150649884 missense variant T/C snv 0.700 0
dbSNP: rs587783751
rs587783751
MTM1
1 1.000 0.080 X 150649902 splice donor variant G/A;C snv 0.700 0
dbSNP: rs587783752
rs587783752
MTM1
2 0.925 0.080 X 150657854 frameshift variant AA/-;AAA delins 0.700 0
dbSNP: rs587783753
rs587783753
MTM1
1 1.000 0.080 X 150596543 stop gained C/T snv 9.5E-06 0.700 0
dbSNP: rs587783756
rs587783756
MTM1
1 1.000 0.080 X 150657903 stop gained G/A snv 0.700 0
dbSNP: rs587783757
rs587783757
MTM1
1 1.000 0.080 X 150657904 stop gained G/A snv 0.700 0
dbSNP: rs587783758
rs587783758
MTM1
1 1.000 0.080 X 150657906 missense variant A/T snv 0.700 0
dbSNP: rs587783760
rs587783760
MTM1
1 1.000 0.080 X 150657947 missense variant G/C snv 0.700 0