Gene: KCNJ11 ×
Source: CURATED ×
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: rs5219
rs5219
KCNJ11
5 0.701 0.360 11 17388025 stop gained T/A;C snv 0.64 0.900 0.906 4 1998 2019
dbSNP: rs5215
rs5215
KCNJ11
3 0.827 0.160 11 17387083 missense variant C/T snv 0.64 0.71 0.860 0.941 11 2007 2018
dbSNP: rs2074314
rs2074314
KCNJ11
1 1.000 0.080 11 17390274 upstream gene variant C/T snv 0.72 0.800 1.000 2 2011 2019
dbSNP: rs1554901596
rs1554901596
KCNJ11
2 0.925 0.080 11 17387124 frameshift variant -/C delins 0.700 0
dbSNP: rs267607196
rs267607196
KCNJ11
5 0.827 0.160 11 17387248 missense variant C/T snv 2.4E-05 2.8E-05 0.700 0