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: rs121912495
rs121912495
1 1.000 0.120 1 156136103 missense variant T/C snv 0.800 1.000 1 2008 2008
dbSNP: rs121912496
rs121912496
3 0.882 0.120 1 156134910 missense variant C/G;T snv 0.800 1.000 1 2008 2008
dbSNP: rs267607596
rs267607596
1 1.000 0.120 1 156135281 missense variant T/C snv 0.700 1.000 1 2008 2008
dbSNP: rs267607597
rs267607597
1 1.000 0.120 1 156136420 missense variant G/A;C snv 0.700 1.000 1 2008 2008
dbSNP: rs267607598
rs267607598
1 1.000 0.120 1 156136414 missense variant G/A;C snv 1.4E-05 0.700 1.000 1 2008 2008
dbSNP: rs267607599
rs267607599
2 0.925 0.120 1 156136422 missense variant A/G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs57983345
rs57983345
6 0.851 0.160 1 156115034 missense variant A/G snv 0.700 1.000 1 2008 2008
dbSNP: rs60695352
rs60695352
2 0.925 0.120 1 156115067 splice donor variant G/A;C;T snv 9.5E-06 0.700 1.000 1 2008 2008
dbSNP: rs11575937
rs11575937
29 0.653 0.480 1 156136985 missense variant G/A;T snv 0.700 0
dbSNP: rs1553261858
rs1553261858
1 1.000 0.120 1 156114977 missense variant C/T snv 0.700 0
dbSNP: rs1553261891
rs1553261891
2 0.925 0.120 1 156115012 missense variant A/G snv 0.700 0
dbSNP: rs267607600
rs267607600
1 1.000 0.120 1 156136919 splice acceptor variant A/G snv 0.700 0
dbSNP: rs267607613
rs267607613
2 0.925 0.120 1 156137678 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs267607632
rs267607632
4 0.851 0.120 1 156134976 splice donor variant G/A;C snv 0.700 0
dbSNP: rs386134243
rs386134243
16 0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs58912633
rs58912633
5 0.851 0.240 1 156130688 missense variant C/G;T snv 0.700 0
dbSNP: rs60458016
rs60458016
5 0.827 0.120 1 156136036 stop gained G/A;T snv 0.700 0
dbSNP: rs60872029
rs60872029
2 0.925 0.120 1 156115010 inframe deletion AAG/- delins 0.700 0
dbSNP: rs864309525
rs864309525
3 0.925 0.120 1 156115007 inframe deletion GAG/- delins 0.700 0