Gene: ELP4 ×
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: rs1131692318
rs1131692318
PAX6 ; ELP4
2 0.925 0.080 11 31790710 stop gained C/A;G snv 0.700 0
dbSNP: rs121907922
rs121907922
PAX6 ; ELP4
12 0.742 0.320 11 31789935 stop gained T/A snv 0.700 0
dbSNP: rs200015827
rs200015827
PAX6 ; ELP4
1 1.000 0.080 11 31790769 missense variant G/C;T snv 4.0E-06; 2.6E-04 0.700 0
dbSNP: rs780356070
rs780356070
PAX6 ; ELP4
1 1.000 0.080 11 31789938 missense variant T/C snv 4.5E-06 7.7E-06 0.700 0