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: rs80338865
rs80338865
WASHC5
2 0.925 0.240 8 125061192 missense variant T/C snv 0.810 1.000 7 2007 2018
dbSNP: rs397515564
rs397515564
WASHC5
2 0.925 0.120 8 125055601 missense variant C/G;T snv 0.800 1.000 6 2007 2014
dbSNP: rs80338866
rs80338866
WASHC5
1 1.000 0.120 8 125057574 missense variant C/A;G snv 0.800 1.000 6 2007 2014
dbSNP: rs80338867
rs80338867
WASHC5
2 0.925 0.200 8 125056817 missense variant C/A snv 0.800 1.000 6 2007 2014
dbSNP: rs755285830
rs755285830
WASHC5
1 1.000 0.120 8 125078772 missense variant A/G;T snv 4.0E-06 0.700 1.000 6 2007 2014
dbSNP: rs1462319941
rs1462319941
WASHC5
2 0.925 0.200 8 125081668 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 1 2013 2013
dbSNP: rs1563627853
rs1563627853
WASHC5
2 0.925 0.200 8 125067721 splice acceptor variant T/C snv 0.700 1.000 1 2013 2013
dbSNP: rs1554593899
rs1554593899
WASHC5
1 1.000 0.120 8 125057659 missense variant G/A snv 0.700 0
dbSNP: rs1554593901
rs1554593901
WASHC5
1 1.000 0.120 8 125057660 missense variant A/G snv 0.700 0
dbSNP: rs1563633906
rs1563633906
WASHC5
2 0.925 0.200 8 125078744 stop gained -/T delins 0.700 0
dbSNP: rs754463353
rs754463353
WASHC5
2 0.925 0.200 8 125078767 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs765926045
rs765926045
WASHC5
2 0.925 0.200 8 125038889 frameshift variant GT/- delins 8.0E-06 7.0E-06 0.700 0