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: rs121913482
rs121913482
FGFR3
45 0.630 0.680 4 1801837 missense variant C/T snv 0.700 0
dbSNP: rs1260978141
rs1260978141
DYNC2H1
8 1.000 0.120 11 103125293 stop gained C/T snv 4.5E-06 0.700 0
dbSNP: rs137853027
rs137853027
DYNC2H1
15 0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 0.700 0
dbSNP: rs1565311145
rs1565311145
DYNC2H1
7 0.882 0.120 11 103116677 stop gained T/A snv 0.700 0
dbSNP: rs1565868973
rs1565868973
TRPV4
6 1.000 0.120 12 109796650 missense variant A/T snv 0.700 0
dbSNP: rs180177135
rs180177135
PALB2
27 0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs376892534
rs376892534
DYNC2H1
6 0.925 0.120 11 103184880 intron variant G/A snv 8.1E-06 0.700 0
dbSNP: rs767846762
rs767846762
DYNC2H1
7 0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 0.700 0
dbSNP: rs778360818
rs778360818
PLOD2
9 0.851 0.120 3 146079255 missense variant C/A snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs780770356
rs780770356
PLOD2 ; LNCSRLR
9 0.851 0.120 3 146071125 stop gained G/A snv 0.700 0
dbSNP: rs875989883
rs875989883
PHEX ; PTCHD1-AS
9 0.851 0.280 X 22219070 missense variant G/A;C snv 0.700 0