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: rs61750168
rs61750168
GUCY2D
4 0.851 0.080 17 8013918 missense variant C/G;T snv 4.0E-06; 1.5E-04 0.710 1.000 2 2018 2019
dbSNP: rs1555635925
rs1555635925
GUCY2D
1 1.000 0.040 17 8015981 frameshift variant -/CGTGCTCT ins 0.700 0
dbSNP: rs386834239
rs386834239
GUCY2D
1 1.000 0.040 17 8016448 frameshift variant -/ACCA delins 0.700 0
dbSNP: rs61749670
rs61749670
GUCY2D
3 0.882 0.080 17 8003434 frameshift variant C/- delins 1.7E-05 7.0E-06 0.700 0
dbSNP: rs750889782
rs750889782
GUCY2D
2 0.925 0.040 17 8013919 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs61749675
rs61749675
GUCY2D
3 0.882 0.080 17 8004104 missense variant T/C snv 0.010 1.000 1 2007 2007