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: rs137853066
rs137853066
KCNJ10
7 0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs1553785033
rs1553785033
SLC2A2
6 0.882 0.120 3 170998321 missense variant C/T snv 0.700 0
dbSNP: rs281874674
rs281874674
COL4A5
8 0.827 0.280 X 108597479 missense variant G/C;T snv 0.700 0
dbSNP: rs953686324
rs953686324
CLCNKB
7 0.851 0.160 1 16044506 frameshift variant -/G delins 4.3E-06 5.6E-05 0.700 0
dbSNP: rs1419256494
rs1419256494
INSR
3 0.882 0.280 19 7142938 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013