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: rs77543610
rs77543610
FGFR2
28 0.667 0.560 10 121520160 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs79184941
rs79184941
FGFR2
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs7968679
rs7968679
PZP ; KLRG1
1 1.000 0.040 12 9160708 intron variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs9321170
rs9321170
LAMA2 ; LOC102723409
1 1.000 0.040 6 129501692 intron variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs9330813
rs9330813
WNT7B
4 1.000 0.040 22 45968281 intron variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs9747347
rs9747347
NPLOC4 ; TSPAN10
2 1.000 0.040 17 81639794 intron variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1057518812
rs1057518812
FBN1
6 0.827 0.240 15 48430742 missense variant T/A snv 0.700 0
dbSNP: rs1057518829
rs1057518829
CACNA1F
2 1.000 0.040 X 49230343 stop gained T/A snv 0.700 0
dbSNP: rs1057518848
rs1057518848
TCF4
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1057518881
rs1057518881
FBN1
6 0.827 0.200 15 48513656 missense variant C/A;G;T snv 0.700 0
dbSNP: rs1057518891
rs1057518891
CHD7
6 0.851 0.120 8 60854479 stop gained C/T snv 0.700 0
dbSNP: rs1057518909
rs1057518909
FBN1
5 0.925 0.120 15 48534099 frameshift variant CATT/- delins 0.700 0
dbSNP: rs1057518938
rs1057518938
MYH11 ; NDE1
5 0.882 0.080 16 15724166 missense variant C/G snv 0.700 0
dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
9 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
dbSNP: rs111854391
rs111854391
TGFBR1
18 0.716 0.280 9 99138006 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs121912882
rs121912882
COL2A1 ; LOC105369752
4 0.851 0.280 12 47979534 missense variant G/A snv 0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs142239530
rs142239530
STIM1
24 0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 0.700 0
dbSNP: rs1441937959
rs1441937959
EFL1
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
8 0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins 0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
45 0.724 0.440 7 39950821 frameshift variant C/- delins 0.700 0
dbSNP: rs1555429629
rs1555429629
RAD51
23 0.763 0.200 15 40729632 missense variant G/A snv 0.700 0