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: rs1057516045
rs1057516045
LBR
8 0.925 0.160 1 225403404 stop gained G/A snv 1.6E-05 0.700 0
dbSNP: rs1057519335
rs1057519335
NPR2
5 0.925 0.040 9 35792968 missense variant T/A snv 0.700 0
dbSNP: rs1272546759
rs1272546759
GNAS
4 0.925 0.120 20 58909718 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1400419650
rs1400419650
TRIP11
38 0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1555386022
rs1555386022
TRIP11
38 0.708 0.320 14 92003418 splice donor variant C/A snv 0.700 0
dbSNP: rs1565256477
rs1565256477
MMP13
4 0.925 0.120 11 102955402 missense variant A/G snv 0.700 0