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: rs78378398
rs78378398
ZFP57
1 1.000 0.120 6 29673282 missense variant G/A;T snv 0.800 1.000 2 2000 2008
dbSNP: rs79020217
rs79020217
MOG ; ZFP57
1 1.000 0.120 6 29672739 missense variant G/C snv 0.800 1.000 1 2000 2000
dbSNP: rs199589695
rs199589695
ZFP57
1 1.000 0.120 6 29673362 missense variant C/T snv 4.1E-05 7.0E-05 0.700 1.000 1 2008 2008
dbSNP: rs606231121
rs606231121
ZFP57
1 1.000 0.120 6 29675420 frameshift variant TCTC/-;TC delins 0.700 0
dbSNP: rs606231122
rs606231122
MOG ; ZFP57
1 1.000 0.120 6 29672728 frameshift variant G/- del 0.700 0
dbSNP: rs606231123
rs606231123
ZFP57
1 1.000 0.120 6 29673206 frameshift variant GTGCCTGG/- delins 4.1E-06 0.700 0
dbSNP: rs61730328
rs61730328
ZFP57
1 1.000 0.120 6 29673328 stop gained G/A;T snv 3.6E-03 0.700 0
dbSNP: rs77625743
rs77625743
ZFP57
1 1.000 0.120 6 29673368 missense variant C/T snv 8.2E-06 1.4E-05 0.700 0
dbSNP: rs1738248
rs1738248
DNAH8
1 1.000 0.120 6 38786848 missense variant C/T snv 6.8E-05 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs193929348
rs193929348
KCNJ11
3 0.882 0.120 11 17387548 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs779736828
rs779736828
ABCC8
2 0.925 0.120 11 17413396 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008