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: rs111033590
rs111033590
WNK1
2 0.925 0.080 12 868772 stop gained C/T snv 2.0E-05 0.700 0
dbSNP: rs137852734
rs137852734
WNK1
1 1.000 0.080 12 868422 frameshift variant A/- delins 0.700 0
dbSNP: rs137852735
rs137852735
WNK1
3 0.882 0.160 12 868745 frameshift variant -/A delins 0.700 0
dbSNP: rs137852736
rs137852736
RETREG1 ; LOC101929524
1 1.000 0.080 5 16616953 frameshift variant AG/- delins 7.0E-06 0.700 0
dbSNP: rs137852737
rs137852737
RETREG1
2 0.925 0.080 5 16565788 stop gained G/A snv 0.700 0
dbSNP: rs137852738
rs137852738
RETREG1
1 1.000 0.080 5 16478032 splice donor variant A/G snv 0.700 0
dbSNP: rs137852739
rs137852739
RETREG1
2 0.925 0.080 5 16477736 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs587778791
rs587778791
KIF1A
4 0.851 0.120 2 240757337 frameshift variant A/- del 7.0E-06 0.700 0
dbSNP: rs587778798
rs587778798
KIF1A
1 1.000 0.080 2 240718111 frameshift variant -/G delins 0.700 0