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: rs9323624
rs9323624
IFT43
2 1.000 0.080 14 76033960 intron variant T/C snv 0.50 0.700 1.000 1 2013 2013
dbSNP: rs9833094
rs9833094
ABI3BP
2 1.000 0.080 3 100872081 intron variant C/A;T snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519445
rs1057519445
SYTL2
1 11 85734436 frameshift variant C/- del 0.700 0
dbSNP: rs1057523354
rs1057523354
COL4A1
13 0.763 0.480 13 110179387 missense variant C/A snv 0.700 0
dbSNP: rs118204456
rs118204456
F12 ; GRK6 ; SLC34A1
7 0.851 0.200 5 177404231 missense variant G/C;T snv 4.3E-06 0.700 0
dbSNP: rs1554995260
rs1554995260
SERPING1
3 1.000 0.120 11 57602098 frameshift variant -/T delins 0.700 0
dbSNP: rs889957249
rs889957249
PLG
2 1.000 0.160 6 160718730 missense variant A/G snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs978962357
rs978962357
SERPING1
1 11 57614553 missense variant T/C snv 4.0E-06 0.700 0