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: rs1057518848
rs1057518848
TCF4
15 0.827 0.240 18 55229003 frameshift variant -/ATTG delins 0.700 0
dbSNP: rs1327062642
rs1327062642
TULP1
11 0.827 0.200 6 35509903 frameshift variant -/G delins 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs34016308
rs34016308
CPSF2
1 1.000 0.040 14 92149397 intron variant -/TA delins 0.19 0.700 1.000 1 2016 2016
dbSNP: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs201140091
rs201140091
FRMPD2
1 1.000 0.040 10 48200198 intron variant A/-;AAAAA;AAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA delins 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: rs11873439
rs11873439
CCDC102B
2 1.000 0.040 18 69077051 intergenic variant A/C snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs4948523
rs4948523
BICC1
1 1.000 0.040 10 58579338 intron variant A/C snv 0.51 0.700 1.000 1 2016 2016
dbSNP: rs498186
rs498186
MMP1 ; WTAPP1
2 0.925 0.080 11 102798914 intron variant A/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C 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: rs11225395
rs11225395
MMP8
11 0.776 0.360 11 102725749 intron variant A/C;G snv 0.010 1.000 1 2012 2012
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: rs3026393
rs3026393
PAX6 ; ELP4
2 0.925 0.040 11 31790667 intron variant A/C;G;T snv 0.48; 8.0E-06; 7.6E-05 0.010 1.000 1 2014 2014
dbSNP: rs11658305
rs11658305 		1 1.000 0.040 17 7526004 intergenic variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs3759223
rs3759223
LUM
2 0.925 0.040 12 91113006 upstream gene variant A/G snv 2.7E-02 0.030 0.667 3 2009 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: rs577948
rs577948
MIR100HG
3 0.882 0.040 11 122159482 intron variant A/G snv 0.33 0.020 < 0.001 2 2011 2014
dbSNP: rs9318086
rs9318086
MIPEP
3 0.882 0.040 13 23858328 intron variant A/G snv 0.55 0.020 1.000 2 2019 2019
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: 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: 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: rs12193446
rs12193446
LAMA2 ; LOC102723409
3 0.925 0.040 6 129498893 intron variant A/G snv 6.4E-02 0.700 1.000 1 2016 2016
dbSNP: rs1585471
rs1585471 		1 1.000 0.040 4 111781479 regulatory region variant A/G snv 0.30 0.010 1.000 1 2012 2012