Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs386834261
RDH12 ; GPHN ; ZFYVE26
0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 5
rs104894475
GPHN ; RDH12
0.925 0.080 14 67726983 missense variant C/A;G snv 8.0E-06 2
rs116733939
GPHN ; RDH12
0.925 0.040 14 67727056 missense variant C/T snv 1.6E-05 3.5E-05 2
rs28940314
GPHN ; RDH12
0.925 0.080 14 67724550 missense variant C/A;T snv 8.0E-06; 1.6E-05 2
rs28940315
GPHN ; RDH12
0.925 0.080 14 67725206 missense variant C/A snv 6.4E-05 3.5E-05 2
rs387906272
GPHN ; RDH12
0.925 0.080 14 67727191 splice donor variant G/A snv 2
rs104894474
RDH12 ; GPHN
0.882 0.080 14 67726086 stop gained G/T snv 2
rs202126574
RDH12 ; GPHN
0.882 0.080 14 67726084 missense variant C/T snv 1.2E-05 2
rs1239043055
RDH12 ; GPHN ; ZFYVE26
0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06 2
rs104894470
GPHN ; RDH12
0.925 0.040 14 67727097 stop gained C/T snv 1
rs104894472
GPHN ; RDH12
1.000 0.040 14 67727055 missense variant T/C snv 1
rs104894473
GPHN ; RDH12
1.000 0.040 14 67724556 missense variant T/A;C snv 1
rs971610277
GPHN ; RDH12
1.000 0.040 14 67727038 missense variant G/A snv 1.2E-05 1.4E-05 1
rs104894471
RDH12 ; GPHN
1.000 0.040 14 67724588 stop gained C/T snv 5.6E-05 7.0E-05 1
rs121434337
RDH12 ; GPHN
1.000 0.040 14 67726996 missense variant C/T snv 2.0E-05 1.4E-05 1
rs794729650
RDH12 ; GPHN
1.000 0.040 14 67722699 frameshift variant CATC/- delins 1
rs104894476
RDH12 ; GPHN ; ZFYVE26
1.000 0.040 14 67729220 missense variant C/G snv 1
rs28940313
ZFYVE26 ; RDH12 ; GPHN
1.000 0.040 14 67729209 splice donor variant A/G snv 7.0E-06 1