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: rs121434578
rs121434578
ABAT
5 1.000 0.080 16 8768248 missense variant G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs724159991
rs724159991
ABAT ; TMEM186
5 1.000 0.080 16 8781360 missense variant T/C snv 0.700 1.000 1 2010 2010
dbSNP: rs724159992
rs724159992
ABAT
5 1.000 0.080 16 8750498 missense variant G/A snv 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs550492993
rs550492993
ST7 ; ST7-AS2
3 0.925 0.040 7 117130530 stop gained T/C;G snv 8.0E-06 0.700 0
dbSNP: rs724159990
rs724159990
ABAT
5 1.000 0.080 16 8768220 missense variant C/T snv 0.700 0
dbSNP: rs730882240
rs730882240
PIGQ
3 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0