Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs875989883
PTCHD1-AS ; PHEX
0.851 0.280 X 22219070 missense variant G/A;C snv 9
rs755686699
PTCHD1-AS ; PHEX
0.882 0.200 X 22221653 stop gained G/A;T snv 5.5E-06 3
rs886039584
PHEX
0.882 0.200 X 22114493 stop gained G/A snv 3
rs1057517980
PTCHD1-AS ; PHEX
1.000 0.200 X 22219071 missense variant G/A;T snv 1
rs1057517981
PHEX ; PTCHD1-AS
1.000 0.200 X 22247901 missense variant G/A;C snv 1
rs1057521800
PTCHD1-AS ; PHEX
1.000 0.200 X 22219074 missense variant A/G snv 1
rs1064793956
PHEX
1.000 0.200 X 22090444 frameshift variant TC/- delins 1
rs1064796928
PHEX
1.000 0.200 X 22178377 splice donor variant G/A;T snv 1
rs1085308012
PHEX
1.000 0.200 X 22133586 missense variant T/C snv 1
rs1131691731
PHEX
1.000 0.200 X 22033124 splice donor variant G/T snv 1
rs1240767654
PHEX ; PTCHD1-AS
1.000 0.200 X 22226509 splice donor variant G/A snv 1
rs1269067103
PHEX ; PHEX-AS1
1.000 0.200 X 22168394 splice region variant G/C;T snv 5.5E-06 1
rs137853268
PHEX
1.000 0.200 X 22094080 stop gained T/A snv 1
rs137853269
PHEX
1.000 0.200 X 22047116 missense variant G/A snv 1
rs137853270
PHEX ; PTCHD1-AS
1.000 0.200 X 22212922 missense variant T/C snv 1
rs137853271
PTCHD1-AS ; PHEX
1.000 0.200 X 22212957 stop gained C/A;T snv 5.5E-06 1
rs1400504292
PHEX ; PTCHD1-AS
1.000 0.200 X 22221719 stop gained T/C;G snv 3.8E-05 1
rs1556010757
PHEX
1.000 0.200 X 22033080 frameshift variant -/T delins 1
rs1556012055
PHEX
1.000 0.200 X 22038466 splice region variant C/G snv 1
rs1556012094
PHEX
1.000 0.200 X 22038536 splice donor variant G/- delins 1
rs1556012100
PHEX
1.000 0.200 X 22038538 splice donor variant G/A;T snv 1
rs1556014263
PHEX
1.000 0.200 X 22047092 missense variant G/T snv 1
rs1556014287
PHEX
1.000 0.200 X 22047115 missense variant T/C snv 1
rs1556020460
PHEX
1.000 0.200 X 22076453 missense variant T/A snv 1
rs1556020474
PHEX
1.000 0.200 X 22076462 frameshift variant T/- del 1