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: rs1057518836
rs1057518836
NDP ; NDP-AS1
4 0.882 0.120 X 43949887 missense variant G/A snv 0.700 0
dbSNP: rs111699024
rs111699024
ATOH7
3 0.925 0.120 10 68231485 missense variant T/C;G snv 8.7E-03; 8.8E-06 0.010 1.000 1 2012 2012
dbSNP: rs1445392566
rs1445392566
CNTN4
2 0.925 0.120 3 2745535 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs587777666
rs587777666
ATOH7
3 0.882 0.080 10 68231542 missense variant T/G snv 0.010 1.000 1 2012 2012