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: rs104893967
rs104893967
GUCA1A
5 0.827 0.080 6 42178374 missense variant A/G snv 0.800 1.000 8 1998 2009
dbSNP: rs104893968
rs104893968
GUCA1A
8 0.790 0.200 6 42173762 missense variant C/G;T snv 4.0E-06; 1.2E-03 0.800 1.000 8 1998 2009
dbSNP: rs121434631
rs121434631
GUCA1A
6 0.807 0.080 6 42179248 missense variant C/G;T snv 4.0E-06 0.800 0
dbSNP: rs1554186441
rs1554186441
GUCA1A
1 1.000 0.080 6 42178809 missense variant GC/TT mnv 0.700 0
dbSNP: rs869320709
rs869320709
GUCA1A
1 1.000 0.080 6 42178328 missense variant C/T snv 0.700 0
dbSNP: rs869320710
rs869320710
GUCA1A
1 1.000 0.080 6 42178398 missense variant T/C snv 4.0E-06 0.700 0