Gene: GUCY2D ×
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: rs1348467293
rs1348467293
GUCY2D
2 1.000 17 8007529 splice donor variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 9 2000 2018
dbSNP: rs143745703
rs143745703
GUCY2D
2 1.000 17 8003979 stop gained C/G;T snv 0.700 1.000 9 2000 2018