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: rs10033900
rs10033900
CFI
7 0.807 0.040 4 109737911 intron variant T/C snv 0.54 0.010 1.000 1 2012 2012
dbSNP: rs10034228
rs10034228 		3 0.882 0.040 4 111690594 intergenic variant T/C snv 0.32 0.020 1.000 2 2012 2019
dbSNP: rs10089517
rs10089517 		2 0.925 0.040 8 59266162 intergenic variant C/A snv 0.31 0.700 1.000 1 2016 2016
dbSNP: rs10113215
rs10113215 		1 1.000 0.040 8 59219635 intergenic variant A/G snv 0.33 0.700 1.000 1 2014 2014
dbSNP: rs10453441
rs10453441
WNT7B
3 1.000 0.040 22 45967859 intron variant A/G snv 0.40 0.020 1.000 2 2015 2018
dbSNP: rs10462070
rs10462070
FGF10
1 1.000 0.040 5 44305647 intron variant A/G snv 1.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs10488
rs10488
MMP1 ; WTAPP1
1 1.000 0.040 11 102797291 synonymous variant C/G;T snv 4.0E-06; 5.7E-02 0.010 1.000 1 2012 2012
dbSNP: rs104894910
rs104894910
NYX
3 0.882 0.080 X 41473734 missense variant G/C snv 0.010 1.000 1 2006 2006
dbSNP: rs10500355
rs10500355
RBFOX1
3 0.925 0.040 16 7409346 intron variant T/A snv 0.29 0.700 1.000 1 2016 2016
dbSNP: rs10511652
rs10511652
ADAMTSL1 ; LOC107986990
1 1.000 0.040 9 18362867 intron variant A/G snv 0.54 0.700 1.000 1 2016 2016
dbSNP: rs10512441
rs10512441 		1 1.000 0.040 17 32912627 regulatory region variant C/T snv 0.21 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: rs1064583
rs1064583
COL10A1 ; NT5DC1
2 0.925 0.040 6 116125413 missense variant A/C;G snv 0.37 0.700 1.000 1 2016 2016
dbSNP: rs1064795104
rs1064795104
EXOC6B
17 0.790 0.440 2 72498492 stop gained A/C snv 0.700 1.000 2 2013 2014
dbSNP: rs10824518
rs10824518
KCNMA1
3 0.882 0.040 10 77303784 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
9 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
dbSNP: rs10860860
rs10860860
HELLPAR ; LINC02456
2 0.925 0.040 12 102387055 non coding transcript exon variant A/T snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs10887265
rs10887265
RGR
1 1.000 0.040 10 84255817 intron variant G/C snv 0.48 0.700 1.000 1 2016 2016