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: rs28940315
rs28940315
GPHN ; RDH12
2 0.925 0.080 14 67725206 missense variant C/A snv 6.4E-05 3.5E-05 0.800 1.000 5 2004 2015
dbSNP: rs104894472
rs104894472
GPHN ; RDH12
1 1.000 0.040 14 67727055 missense variant T/C snv 0.800 1.000 2 2004 2004
dbSNP: rs104894473
rs104894473
GPHN ; RDH12
1 1.000 0.040 14 67724556 missense variant T/A;C snv 0.800 1.000 2 2004 2004
dbSNP: rs104894475
rs104894475
GPHN ; RDH12
2 0.925 0.080 14 67726983 missense variant C/A;G snv 8.0E-06 0.800 1.000 2 2004 2004
dbSNP: rs104894476
rs104894476
GPHN ; ZFYVE26 ; RDH12
1 1.000 0.040 14 67729220 missense variant C/G snv 0.800 1.000 2 2004 2004
dbSNP: rs28940313
rs28940313
GPHN ; ZFYVE26 ; RDH12
1 1.000 0.040 14 67729209 splice donor variant A/G snv 7.0E-06 0.800 1.000 2 2004 2004
dbSNP: rs28940314
rs28940314
GPHN ; RDH12
2 0.925 0.080 14 67724550 missense variant C/A;T snv 8.0E-06; 1.6E-05 0.800 1.000 2 2004 2004
dbSNP: rs386834261
rs386834261
GPHN ; ZFYVE26 ; RDH12
5 0.882 0.080 14 67729337 frameshift variant CCCTG/- delins 9.1E-05 0.700 1.000 5 2005 2015
dbSNP: rs104894471
rs104894471
GPHN ; RDH12
1 1.000 0.040 14 67724588 stop gained C/T snv 5.6E-05 7.0E-05 0.700 1.000 4 2004 2017
dbSNP: rs104894474
rs104894474
GPHN ; RDH12
3 0.882 0.080 14 67726086 stop gained G/T snv 0.700 1.000 3 2004 2016
dbSNP: rs368489658
rs368489658
GPHN ; RDH12
1 1.000 0.040 14 67725137 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 3 2009 2015
dbSNP: rs1239043055
rs1239043055
GPHN ; ZFYVE26 ; RDH12
2 0.925 0.080 14 67729248 missense variant G/A;T snv 8.1E-06; 4.0E-06 0.700 1.000 2 2005 2014
dbSNP: rs794729650
rs794729650
GPHN ; RDH12
1 1.000 0.040 14 67722699 frameshift variant CATC/- delins 0.700 1.000 1 2007 2007
dbSNP: rs971610277
rs971610277
GPHN ; RDH12
1 1.000 0.040 14 67727038 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2011 2011
dbSNP: rs104894470
rs104894470
GPHN ; RDH12
2 0.925 0.040 14 67727097 stop gained C/T snv 0.700 0
dbSNP: rs116649873
rs116649873
GPHN ; RDH12
1 1.000 0.040 14 67726144 missense variant T/A snv 1.2E-05 0.700 0
dbSNP: rs116733939
rs116733939
GPHN ; RDH12
2 0.925 0.040 14 67727056 missense variant C/T snv 1.6E-05 3.5E-05 0.700 0
dbSNP: rs121434337
rs121434337
GPHN ; RDH12
1 1.000 0.040 14 67726996 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs202126574
rs202126574
GPHN ; RDH12
3 0.882 0.080 14 67726084 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs387906272
rs387906272
GPHN ; RDH12
2 0.925 0.080 14 67727191 splice donor variant G/A snv 0.700 0