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: rs267606967
rs267606967
POMT2
1 1.000 14 77277386 missense variant C/G snv 0.800 1.000 2 2007 2007
dbSNP: rs267606971
rs267606971
POMT2
1 1.000 14 77302940 missense variant G/A snv 4.0E-06 0.800 1.000 2 2007 2007
dbSNP: rs1555351894
rs1555351894
POMT2
3 0.882 0.120 14 77280051 frameshift variant GT/- delins 0.700 1.000 3 2007 2017
dbSNP: rs200198778
rs200198778
POMT2
5 0.827 0.160 14 77278764 missense variant T/C snv 5.6E-05 9.8E-05 0.700 1.000 3 2007 2014
dbSNP: rs886044256
rs886044256
POMT2
3 0.882 0.120 14 77298773 splice acceptor variant T/C;G snv 7.0E-06 0.700 1.000 3 2005 2015
dbSNP: rs1185491348
rs1185491348
POMT2
3 0.882 0.120 14 77285042 splice acceptor variant CT/- del 7.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs727502855
rs727502855
POMT2
1 1.000 14 77286815 missense variant G/A;C snv 2.4E-05; 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs961440747
rs961440747
GSTZ1 ; POMT2
3 0.882 0.120 14 77320433 splice donor variant C/A;G snv 1.4E-05 0.700 1.000 1 2005 2005
dbSNP: rs147871747
rs147871747
POMT2
3 0.882 0.120 14 77302843 stop gained G/A;C;T snv 1.4E-04; 1.2E-05; 4.0E-06 0.700 0
dbSNP: rs1555352706
rs1555352706
POMT2
3 0.882 0.120 14 77286782 frameshift variant -/G delins 0.700 0
dbSNP: rs368817785
rs368817785
POMT2
3 0.882 0.120 14 77285548 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs587780422
rs587780422
POMT2
1 1.000 14 77298684 splice region variant C/T snv 2.0E-05 0.700 0
dbSNP: rs587780423
rs587780423
POMT2
1 1.000 14 77299497 missense variant T/C snv 4.0E-06; 1.2E-05 2.1E-05 0.700 0
dbSNP: rs775932206
rs775932206
POMT2
3 0.882 0.120 14 77298737 stop gained G/A snv 1.2E-05 0.700 0