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: rs6719014
rs6719014
FLACC1
1 2 201311301 intron variant T/C snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs6731171
rs6731171
FLACC1
1 2 201314288 intron variant T/A snv 0.59 0.700 1.000 1 2012 2012
dbSNP: rs6735641
rs6735641
FLACC1
1 2 201315768 intron variant T/C snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs6745435
rs6745435
FLACC1
1 2 201337840 intron variant G/A snv 0.47 0.700 1.000 1 2012 2012
dbSNP: rs6757783
rs6757783
FLACC1
1 2 201335101 intron variant C/T snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs6894687
rs6894687
MCC
1 5 113407256 intron variant G/C snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs7022441
rs7022441
TMC1 ; LOC101927234
1 9 72521873 5 prime UTR variant G/A snv 0.53 0.700 1.000 1 2012 2012
dbSNP: rs7206735
rs7206735 		1 16 50114597 intron variant T/C snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs753544
rs753544 		1 6 29812752 upstream gene variant C/T snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs7579792
rs7579792
FLACC1
1 2 201335727 intron variant A/G snv 0.86 0.700 1.000 1 2012 2012
dbSNP: rs7582362
rs7582362
FLACC1
1 2 201311571 intron variant A/G snv 0.72 0.700 1.000 1 2012 2012
dbSNP: rs7597617
rs7597617
FLACC1
1 2 201338512 intron variant G/A snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs7851133
rs7851133
MTAP
1 9 21846328 intron variant C/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs8057779
rs8057779
WWOX
1 16 78349243 intron variant C/G snv 0.52 0.700 1.000 1 2012 2012
dbSNP: rs896570
rs896570 		1 10 47145727 intergenic variant C/T snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs902907
rs902907 		1 9 79199649 upstream gene variant G/A snv 0.56 0.700 1.000 1 2012 2012
dbSNP: rs9288318
rs9288318
FLACC1
1 2 201331340 intron variant C/A snv 0.63 0.700 1.000 1 2012 2012
dbSNP: rs9288520
rs9288520 		1 2 216616548 intergenic variant G/A snv 0.14 0.800 1.000 1 2012 2012
dbSNP: rs9547991
rs9547991
TRPC4
1 13 37643278 intron variant T/C snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs9566910
rs9566910
DGKH
1 13 42076866 intron variant G/A snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs747621669
rs747621669
CDKN2A
1 9 21970988 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 1.000 11 2005 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2013 2013
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.080 0.875 8 2009 2015
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.070 0.857 7 2009 2015