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: rs9404576
rs9404576
HACE1
3 0.882 0.160 6 104736765 intron variant T/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs314276
rs314276
LIN28B
10 0.807 0.280 6 104960124 intron variant A/C snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2009 2015
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
dbSNP: rs776031963
rs776031963
CRB2
1 1.000 0.160 9 123371433 missense variant G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs122453120
rs122453120
GPC3
1 1.000 0.160 X 133536162 missense variant C/T snv 0.700 0
dbSNP: rs1569392947
rs1569392947
GPC3
1 1.000 0.160 X 133596542 stop gained C/A snv 0.700 0
dbSNP: rs1569408743
rs1569408743
GPC3
1 1.000 0.160 X 133661836 frameshift variant G/- del 0.700 0
dbSNP: rs122453121
rs122453121
GPC3
2 0.925 0.440 X 133699902 stop gained G/A snv 0.700 1.000 3 2007 2014
dbSNP: rs1556297749
rs1556297749
GPC3
1 1.000 0.160 X 133753860 frameshift variant CTGGGTCATAATAAGCTTGGGGAAAT/TGCAAG delins 0.700 0
dbSNP: rs104894855
rs104894855
GPC3
2 0.925 0.440 X 133753919 stop gained G/A snv 0.700 0
dbSNP: rs122453119
rs122453119
GPC3
1 1.000 0.160 X 133754153 missense variant G/A snv 0.700 0
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs3755132
rs3755132 		1 1.000 0.160 2 15589696 upstream gene variant T/G snv 0.26 0.800 1.000 1 2012 2012
dbSNP: rs807624
rs807624 		2 1.000 0.160 2 15642347 regulatory region variant G/T snv 0.47 0.800 1.000 1 2012 2012
dbSNP: rs57961569
rs57961569
MYCN ; MYCNOS
5 0.827 0.200 2 15939643 intron variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs5955543
rs5955543
NHS
1 1.000 0.160 X 17680277 intron variant A/G snv 0.17 0.800 1.000 1 2012 2012
dbSNP: rs778634417
rs778634417
TTN ; TTN-AS1
1 1.000 0.160 2 178633467 missense variant C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs7585356
rs7585356
BARD1
1 1.000 0.160 2 214727582 3 prime UTR variant G/A snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs267607071
rs267607071
SMARCAL1
2 0.925 0.320 2 216475315 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1553551874
rs1553551874
DIS3L2
1 1.000 0.160 2 232334720 frameshift variant GC/- delins 0.700 0
dbSNP: rs11994014
rs11994014 		5 0.827 0.200 8 24944767 intergenic variant A/G snv 0.70 0.010 1.000 1 2019 2019
dbSNP: rs2979704
rs2979704
NEFL
5 0.827 0.200 8 24951554 3 prime UTR variant C/T snv 0.78 0.010 1.000 1 2019 2019
dbSNP: rs1059111
rs1059111
NEFL
5 0.827 0.200 8 24952575 3 prime UTR variant T/A;G snv 0.010 1.000 1 2019 2019