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: rs1368733883
rs1368733883
GUCY1A1 ; LOC105377506
1 1.000 4 155730112 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs373182378
rs373182378
GUCY1A1
2 0.925 0.080 4 155713269 stop gained C/T snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs587777320
rs587777320
GUCY1A1
1 1.000 4 155711252 splice donor variant G/A;T snv 0.700 0
dbSNP: rs587777321
rs587777321
GUCY1A1
1 1.000 4 155711210 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs587777322
rs587777322
GUCY1A1
1 1.000 4 155713181 frameshift variant A/- del 0.700 0