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: rs1553630457
rs1553630457
TGFBR2
8 0.882 0.240 3 30674231 missense variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs1057518871
rs1057518871
COL5A1
10 0.925 0.120 9 134798410 frameshift variant C/- delins 0.700 0
dbSNP: rs1553354952
rs1553354952
WDR26
4 0.882 0.200 1 224404492 missense variant C/T snv 0.700 0
dbSNP: rs1553354956
rs1553354956
WDR26
4 0.882 0.200 1 224404504 missense variant A/C snv 0.700 0
dbSNP: rs1555575860
rs1555575860
COG4
31 0.732 0.240 16 70496367 missense variant C/G;T snv 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 0.700 0